CardioPathy panel. versie V4 (167 genen) Centrum voor Medische Genetica Gent

Transcription

1 CardioPathy panel versie V4 (167 genen) Centrum voor Medische Genetica Gent Gene OMIM gene ID ABCC Associated phenotype, OMIM phenotype ID, phenotype mapping key and inheritance pattern Atrial fibrillation, familial, 12, (3), ; Cardiomyopathy, dilated, 1O, (3); Hypertrichotic osteochondrodysplasia, (3), ACADVL VLCAD deficiency, (3), Autosomal ACTA Aortic aneurysm, familial thoracic 6, (3), ; Moyamoya disease 5, (3); Multisystemic smooth muscle dysfunction syndrome, (3), ACTC ACTN Atrial septal defect 5, (3), ; Cardiomyopathy, dilated, 1R, (3), ; Cardiomyopathy, hypertrophic, 11, (3), ; Left ventricular noncompaction 4, (3), Cardiomyopathy, dilated, 1AA, with or without LVNC, (3), ; Cardiomyopathy, hypertrophic, 23, with or without LVNC, (3), AGL Glycogen storage disease IIIa, (3), Autosomal ; Glycogen storage disease IIIb, (3), Autosomal AKAP {Cardiac conduction defect, susceptibility to}, (3), Autosomal AKAP ?Long QT syndrome-11, (3), ALG {Long QT syndrome, acquired, reduced susceptibility to}, (3), ANK Cardiac arrhythmia, ankyrin-b-related, (3), ; Long QT syndrome 4, (3), ANKRD No OMIM phenotype ATP5E ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, (3) BAG Cardiomyopathy, dilated, 1HH, (3), ; Myopathy, myofibrillar, 6, (3), BRAF Adenocarcinoma of lung, somatic, (3); Cardiofaciocutaneous syndrome, (3), ; Colorectal cancer, somatic (3); LEOPARD syndrome 3, (3), ; Melanoma, malignant, somatic (3); Nonsmall cell lung cancer, somatic (3); Noonan syndrome 7, (3), CACNA1C Brugada syndrome 3, (3); Timothy syndrome, (3), CACNA2D No OMIM phenotype 1/12

2 CACNB Brugada syndrome 4, (3) CALM Long QT syndrome 14, (3), ; Ventricular tachycardia, catecholaminergic polymorphic, 4, (3), Autosomal CALM Long QT syndrome 15, (3), CALR ?Cardiomyopathy, hypertrophic, 19, (3), CASQ Ventricular tachycardia, catecholaminergic polymorphic, 2, (3), Autosomal CAV CBL Cardiomyopathy, familial hypertrophic, (3), ; Creatine phosphokinase, elevated serum, (3), Autosomal ; Long QT syndrome 9, (3), ; Muscular dystrophy, limb-girdle, type IC, (3), Autosomal, ; Myopathy, distal, Tateyama type, (3), ; Rippling muscle disease, (3), Autosomal?Juvenile myelomonocytic leukemia, (3),, Somatic mutation; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, (3), CFC Heterotaxy, visceral, 2, autosomal, (3), CITED Atrial septal defect 8, (3), ; Ventricular septal defect 2, (3), COA CRELD CRYAB ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, (3), Autosomal Atrioventricular septal defect, partial, with heterotaxy syndrome, (3), ; {Atrioventricular septal defect, susceptibility to, 2}, (3), Cardiomyopathy, dilated, 1II, (3), ; Cataract 16, multiple types, (3), Autosomal, ; Myopathy, myofibrillar, 2, (3), ; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related, (3), Autosomal CSRP ?Cardiomyopathy, dilated, 1M, (3); Cardiomyopathy, hypertrophic, 12, (3), CTF No OMIM phenotype CTNNA Macular dystrophy, patterned, 2, (3), CTNNA Arrhythmogenic right ventricular dysplasia, familial, 13, (3), DCHS Mitral valve prolapse 2, (3), ; Van Maldergem syndrome 1, (3), Autosomal 2/12

3 DES Cardiomyopathy, dilated, 1I, (3);?Muscular dystrophy, limb-girdle, type 2R, (3), Autosomal ; Myopathy, myofibrillar, 1, (3), Autosomal, ; Scapuloperoneal syndrome, neurogenic, Kaeser type, (3), DMD Becker muscular dystrophy, (3), X-linked ; Cardiomyopathy, dilated, 3B, (3), X-linked; Duchenne muscular dystrophy, (3), X-linked DMPK Myotonic dystrophy 1, (3), DNM1L Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, (3), Autosomal, DOLK DPP Congenital disorder of glycosylation, type Im, (3), Autosomal Mental retardation, autosomal 33, (3); {Ventricular fibrillation, paroxysmal familial, 2}, (3), DSC DSG DSP DTNA ELN EMD EYA FBN Arrhythmogenic right ventricular dysplasia 11, (3), Autosomal, ; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, (3), Autosomal, Arrhythmogenic right ventricular dysplasia 10, (3), Autosomal ; Cardiomyopathy, dilated, 1BB, (3) Arrhythmogenic right ventricular dysplasia 8, (3), Autosomal ; Cardiomyopathy, dilated, with woolly hair and keratoderma, (3), Autosomal ; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, (3), ; Epidermolysis bullosa, lethal acantholytic, (3), Autosomal ; Keratosis palmoplantaris striata II, (3); Skin fragilitywoolly hair syndrome, (3), Autosomal Left ventricular noncompaction 1, with or without congenital heart defects, (3), Cutis laxa, autosomal, (3), ; Supravalvar aortic stenosis, (3), Emery-Dreifuss muscular dystrophy 1, X-linked, (3), X-linked Cardiomyopathy, dilated, 1J, (3); Deafness, autosomal 10, (3), Acromicric dysplasia, (3), ; Ectopia lentis, familial, (3), ; Geleophysic dysplasia 2, (3), ; MASS syndrome, (3); Marfan lipodystrophy syndrome, (3), ; Marfan syndrome, (3), ; Stiff skin syndrome, (3), ; Weill-Marchesani syndrome 2,, (3), 3/12

4 FBXO No OMIM phenotype FHL Emery-Dreifuss muscular dystrophy 6, X-linked, (3), X-linked ; Myopathy, X-linked, with postural muscle atrophy, (3), X-linked ; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, (3), X-linked ; Reducing body myopathy, X-linked 1b, with late childhood or adult onset, (3), X- linked; Scapuloperoneal myopathy, X-linked, (3), X- linked FHL No OMIM phenotype FKRP Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, (3), Autosomal ; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, (3), Autosomal ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, (3), Autosomal FKTN Cardiomyopathy, dilated, 1X, (3), Autosomal ; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, (3), Autosomal ; Muscular dystrophydystroglycanopathy (congenital without mental retardation), type B, 4, (3), Autosomal ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, (3), Autosomal FOXRED Leigh syndrome due to mitochondrial complex I deficiency, (3), Autosomal, Mitochondrial; Mitochondrial complex I deficiency, (3), Autosomal, X-linked, Mitochondrial FXN Friedreich ataxia, (3), Autosomal ; Friedreich ataxia with retained reflexes, (3), Autosomal GAA Glycogen storage disease II, (3), Autosomal GATA Atrial septal defect 2, (3), ; Atrioventricular septal defect 4, (3), ;?Testicular anomalies with or without congenital heart disease, (3), Autosomal ; Tetralogy of Fallot, (3), ; Ventricular septal defect 1, (3), GATA No OMIM phenotype GATA Atrial septal defect 9, (3), ; Atrioventricular septal defect 5, (3), ; Pancreatic agenesis and congenital heart defects, (3), ; Persistent truncus arteriosus, (3); Tetralogy of Fallot, (3), Autosomal GATAD ?Cardiomyopathy, dilated, 2B, (3), Autosomal 4/12

5 GDF GJA GJA GLA GLB Double-outlet right ventricle, (3); Right atrial isomerism, (3), Autosomal ; Tetralogy of Fallot, (3), Autosomal ; Transposition of great arteries, dextro-looped 3, (3), Atrioventricular septal defect 3, (3), ; Craniometaphyseal dysplasia, autosomal, (3), Autosomal ; Erythrokeratodermia variabilis et progressiva 3, (3); Hypoplastic left heart syndrome 1, (3), Autosomal ; Oculodentodigital dysplasia, (3), ; Oculodentodigital dysplasia, autosomal, (3), Autosomal ; Palmoplantar keratoderma with congenital alopecia, (3), ; Syndactyly, type III, (3), Autosomal Atrial fibrillation, familial, 11, (3), ; Atrial standstill, digenic (GJA5/SCN5A), (3), Fabry disease, (3), X-linked; Fabry disease, cardiac variant, (3), X-linked GM1-gangliosidosis, type I, (3), Autosomal ; GM1- gangliosidosis, type II, (3), Autosomal ; GM1- gangliosidosis, type III, (3), Autosomal ; Mucopolysaccharidosis type IVB (Morquio), (3), Autosomal GPD1L Brugada syndrome 2, (3) GUSB Mucopolysaccharidosis VII, (3), Autosomal HAND1 No OMIM gene No OMIM phenotype HCN Brugada syndrome 8, (3); Sick sinus syndrome 2, (3), HFE HRAS {Alzheimer disease, susceptibility to}, (3), ; Hemochromatosis, (3), Autosomal ; {Microvascular complications of diabetes 7}, (3); {Porphyria cutanea tarda, susceptibility to}, (3), Autosomal, ; {Porphyria variegata, susceptibility to}, (3), ; [Transferrin serum level QTL2], (3) {Bladder cancer, somatic}, (3); Congenital myopathy with excess of muscle spindles, (3),, Isolated cases; Costello syndrome, (3),, Isolated cases; {Nevus sebaceous or woolly hair nevus, somatic}, (3); Schimmelpenning- Feuerstein-Mims syndrome, somatic mosaic, (3); {Spitz nevus or nevus spilus, somatic}, (3); {Thyroid carcinoma, follicular, somatic}, (3) ILK No OMIM phenotype 5/12

6 JAG Alagille syndrome 1, (3), ;?Deafness, congenital heart defects, and posterior embryotoxon (3); Tetralogy of Fallot, (3), JPH Cardiomyopathy, hypertrophic, 17, (3), JUP Arrhythmogenic right ventricular dysplasia 12, (3), Autosomal ; Naxos disease, (3), Autosomal KCNA Atrial fibrillation, familial, 7, (3), KCND Brugada syndrome 9, (3), ; Spinocerebellar ataxia 19, (3), KCNE Jervell and Lange-Nielsen syndrome 2, (3), Autosomal ; Long QT syndrome 5, (3), KCNE Atrial fibrillation, familial, 4, (3); Long QT syndrome 6, (3), KCNE Brugada syndrome 6, (3) KCNE No OMIM phenotype KCNH Long QT syndrome 2, (3), ; {Long QT syndrome 2, acquired, susceptibility to}, (3), ; Short QT syndrome 1, (3) KCNJ Andersen syndrome, (3), ; Atrial fibrillation, familial, 9, (3), ; Short QT syndrome 3, (3) KCNJ Hyperaldosteronism, familial, type III, (3), ; Long QT syndrome 13, (3), KCNJ No OMIM phenotype KCNQ Atrial fibrillation, familial, 3, (3), ; Jervell and Lange-Nielsen syndrome, (3), Autosomal ; Long QT syndrome 1, (3), ; {Long QT syndrome 1, acquired, susceptibility to}, (3), ; Short QT syndrome 2, (3), KRAS Bladder cancer, somatic, (3); Breast cancer, somatic, (3); Cardiofaciocutaneous syndrome 2, (3); Gastric cancer, somatic, (3); Leukemia, acute myeloid, (3), ; Lung cancer, somatic, (3); Noonan syndrome 3, (3); Pancreatic carcinoma, somatic, (3); RAS-associated autoimmune leukoproliferative disorder, (3), ; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, (3) LAMA Cardiomyopathy, dilated, 1JJ, (3), LAMP Danon disease, (3), X-linked 6/12

7 LDB Cardiomyopathy, dilated, 1C, with or without LVNC, (3), ; Cardiomyopathy, hypertrophic, 24, (3), ; Left ventricular noncompaction 3, (3), ; Myopathy, myofibrillar, 4, (3), Autosomal LMNA Cardiomyopathy, dilated, 1A, (3), ; Charcot- Marie-Tooth disease, type 2B1, (3), Autosomal ; Emery- Dreifuss muscular dystrophy 2, AD, (3), ; Emery-Dreifuss muscular dystrophy 3, AR, (3), Autosomal ; Heart-hand syndrome, Slovenian type, (3), Autosomal ; Hutchinson-Gilford progeria, (3), Autosomal, ; Lipodystrophy, familial partial, type 2, (3), ; Malouf syndrome, (3), Autosomal ; Mandibuloacral dysplasia, (3), Autosomal ; Muscular dystrophy, congenital, (3), ; Muscular dystrophy, limb-girdle, type 1B, (3), Autosomal ; Restrictive dermopathy, lethal, (3), Autosomal MAP2K Cardiofaciocutaneous syndrome 3, (3) MAP2K Cardiofaciocutaneous syndrome 4, (3) MED13L Mental retardation and distinctive facial features with or without cardiac defects, (3), ; Transposition of the great arteries, dextro-looped 1, (3), MIB Left ventricular noncompaction 7, (3), MRPL Combined oxidative phosphorylation deficiency 9, (3), Autosomal MYBPC Cardiomyopathy, dilated, 1MM, (3), ; Cardiomyopathy, hypertrophic, 4, (3), ; Left ventricular noncompaction 10, (3), MYH MYH Atrial septal defect 3, (3); Cardiomyopathy, dilated, 1EE, (3); Cardiomyopathy, hypertrophic, 14, (3), ; {Sick sinus syndrome 3}, (3) Cardiomyopathy, dilated, 1S, (3), ; Cardiomyopathy, hypertrophic, 1, (3), ; Laing distal myopathy, (3), ; Left ventricular noncompaction 5, (3), ; Myopathy, myosin storage, autosomal, (3), ; Myopathy, myosin storage, autosomal, (3), Autosomal ; Scapuloperoneal syndrome, myopathic type, (3), MYL Cardiomyopathy, hypertrophic, 10, (3), MYL Cardiomyopathy, hypertrophic, 8, (3), 7/12

8 MYLK Cardiomyopathy, hypertrophic, 1, digenic, (3), Autosomal MYOM No OMIM phenotype MYOZ No OMIM phenotype MYOZ Cardiomyopathy, hypertrophic, 16, (3), MYPN Cardiomyopathy, dilated, 1KK, (3), ; Cardiomyopathy, familial restrictive, 4, (3), ; Cardiomyopathy, hypertrophic, 22, (3), ; Nemaline myopathy 11, autosomal, (3), Autosomal NEBL No OMIM phenotype NEXN Cardiomyopathy, dilated, 1CC, (3), ; Cardiomyopathy, hypertrophic, 20, (3), NKX Atrial septal defect 7, with or without AV conduction defects, (3), ; Conotruncal heart malformations, variable, (3); Hypoplastic left heart syndrome 2, (3), ; Hypothyroidism, congenital nongoitrous, 5, (3), Autosomal ; Tetralogy of Fallot, (3), ; Ventricular septal defect 3, (3), NKX Conotruncal heart malformations, (3); Persistent truncus arteriosus, (3) NOS1AP No OMIM phenotype NPPA Atrial fibrillation, familial, 6, (3), ; Atrial standstill 2, (3), Autosomal NRAS Colorectal cancer, somatic, (3); Epidermal nevus, somatic, (3); Melanocytic nevus syndrome, congenital, somatic, (3); Neurocutaneous melanosis, somatic, (3); Noonan syndrome 6, (3), ;?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic, (3); Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, (3); Thyroid carcinoma, follicular, somatic, (3) PDLIM No OMIM phenotype PKP Arrhythmogenic right ventricular dysplasia 9, (3), Autosomal PLN Cardiomyopathy, dilated, 1P, (3); Cardiomyopathy, hypertrophic, 18, (3), PRKAG Cardiomyopathy, hypertrophic 6, (3), ; Glycogen storage disease of heart, lethal congenital, (3), ; Wolff-Parkinson-White syndrome, (3),? 8/12

9 PSEN PSEN PTPN Acne inversa, familial, 3, (3), ; Alzheimer disease, type 3, (3), ; Alzheimer disease, type 3, with spastic paraparesis and apraxia, (3), ; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, (3), ; Cardiomyopathy, dilated, 1U, (3), ; Dementia, frontotemporal, (3), ; Pick disease, (3),, Isolated cases Alzheimer disease-4, (3), ; Cardiomyopathy, dilated, 1V, (3), LEOPARD syndrome 1, (3), ; Leukemia, juvenile myelomonocytic, somatic, (3); Metachondromatosis, (3), ; Noonan syndrome 1, (3), RAF Cardiomyopathy, dilated, 1NN, (3), ; LEOPARD syndrome 2, (3); Noonan syndrome 5, (3) RANGRF No OMIM phenotype RBM Cardiomyopathy, dilated, 1DD, (3), RYR Arrhythmogenic right ventricular dysplasia 2, (3), Autosomal ; Ventricular tachycardia, catecholaminergic polymorphic, 1, (3), SCN1B Atrial fibrillation, familial, 13, (3), ; Brugada syndrome 5, (3); Cardiac conduction defect, nonspecific, (3); Epilepsy, generalized, with febrile seizures plus, type 1, (3), ; Epileptic encephalopathy, early infantile, 52, (3), Autosomal SCN2B Atrial fibrillation, familial, 14, (3), SCN3B Atrial fibrillation, familial, 16, (3), ; Brugada syndrome 7, (3), SCN4B Atrial fibrillation, familial, 17, (3), ; Long QT syndrome-10, (3), SCN5A Atrial fibrillation, familial, 10, (3), ; Brugada syndrome 1, (3), ; Cardiomyopathy, dilated, 1E, (3), ; Heart block, nonprogressive, (3), ; Heart block, progressive, type IA, (3), ; Long QT syndrome-3, (3), Autosomal ; Sick sinus syndrome 1, (3), Autosomal ; {Sudden infant death syndrome, susceptibility to}, (3), Autosomal ; Ventricular fibrillation, familial, 1, (3) SCO Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, (3), Autosomal ; Myopia 6, (3), 9/12

10 SDHA Cardiomyopathy, dilated, 1GG, (3); Leigh syndrome, (3), Autosomal, Mitochondrial; Mitochondrial respiratory chain complex II deficiency, (3), Autosomal ; Paragangliomas 5, (3), SGCD Cardiomyopathy, dilated, 1L, (3); Muscular dystrophy, limb-girdle, type 2F, (3), Autosomal SHOC Noonan-like syndrome with loose anagen hair, (3), Autosomal SLC25A Mitochondrial phosphate carrier deficiency, (3) SLMAP No OMIM phenotype SMAD Loeys-Dietz syndrome 3, (3), SNTA Long QT syndrome 12, (3), SOD {Microvascular complications of diabetes 6}, (3) SOS ?Fibromatosis, gingival, 1, (3), ; Noonan syndrome 4, (3), SPRED Legius syndrome, (3), SYNE Emery-Dreifuss muscular dystrophy 4, autosomal, (3), ; Spinocerebellar ataxia, autosomal 8, (3), Autosomal SYNE Emery-Dreifuss muscular dystrophy 5, autosomal, (3), TAZ Barth syndrome, (3), X-linked TBX Conotruncal anomaly face syndrome, (3); DiGeorge syndrome, (3), ; Tetralogy of Fallot, (3), ; Velocardiofacial syndrome, (3), Autosomal TBX Atrial septal defect 4, (3) TCAP Cardiomyopathy, hypertrophic, 25, (3), ; Muscular dystrophy, limb-girdle, type 2G, (3), Autosomal TGFB Loeys-Dietz syndrome 4, (3), TGFB Arrhythmogenic right ventricular dysplasia 1, (3), Autosomal ; Loeys-Dietz syndrome 5, (3), TGFBR TGFBR Loeys-Dietz syndrome 1, (3), ; {Multiple selfhealing squamous epithelioma, susceptibility to}, (3), Autosomal Colorectal cancer, hereditary nonpolyposis, type 6, (3); Esophageal cancer, somatic, (3); Loeys-Dietz syndrome 2, (3), TLL Atrial septal defect 6, (3), TMEM Arrhythmogenic right ventricular dysplasia 5, (3), Autosomal ; Emery-Dreifuss muscular dystrophy 7, AD, (3), 10/12

11 TMEM Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, (3), Autosomal TMPO No OMIM phenotype TNNC Cardiomyopathy, dilated, 1Z, (3); Cardiomyopathy, hypertrophic, 13, (3), TNNI Cardiomyopathy, dilated, 1FF, (3);?Cardiomyopathy, dilated, 2A, (3), Autosomal ; Cardiomyopathy, familial restrictive, 1, (3), ; Cardiomyopathy, hypertrophic, 7, (3), TNNT TPM Cardiomyopathy, dilated, 1D, (3), ; Cardiomyopathy, familial restrictive, 3, (3), ; Cardiomyopathy, hypertrophic, 2, (3), ; Left ventricular noncompaction 6, (3), Cardiomyopathy, dilated, 1Y, (3), ; Cardiomyopathy, hypertrophic, 3, (3), ; Left ventricular noncompaction 9, (3), TRDN Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, (3), Autosomal TRIM No OMIM phenotype TRPM Progressive familial heart block, type IB, (3), TSFM TTN TTR Combined oxidative phosphorylation deficiency 3, (3), Autosomal Cardiomyopathy, dilated, 1G, (3); Cardiomyopathy, familial hypertrophic, 9, (3), ; Muscular dystrophy, limb-girdle, type 2J, (3), Autosomal ; Myopathy, proximal, with early respiratory muscle involvement, (3); Salih myopathy, (3), Autosomal ; Tibial muscular dystrophy, tardive, (3), Amyloidosis, hereditary, transthyretin-related, (3), Autosomal ; Carpal tunnel syndrome, familial, (3), Autosomal ; [Dystransthyretinemic hyperthyroxinemia], (3), TXNRD No OMIM phenotype VCL Cardiomyopathy, dilated, 1W, (3); Cardiomyopathy, hypertrophic, 15, (3), XK ZFPM McLeod syndrome with or without chronic granulomatous disease, (3), X-linked Diaphragmatic hernia 3, (3); Tetralogy of Fallot, (3), ; 46XY sex reversal 9, (3), Autosomal 11/12

12 Gene symbols used are according to the HGNC guidelines. For some genes a previously HGNCapproved symbol is in brackets. Each Phenotype is followed by its MIM number, phenotype mapping key and inheritance pattern. OMIM release used for OMIM disease identifiers and descriptions: June 06, 2017 Possible phenotype mapping keys (1) the disorder is placed on the map based on its association with a gene, but the underlying defect is not known (2) the disorder has been placed on the map by linkage; no mutation has been found (3) the molecular basis for the disorder is known; a mutation has been found in the gene (4) a contiguous gene deletion or duplication syndrome, multiple genes are deleted or duplicated causing the phenotype Brackets, "[ ]", indicate "nondiseases," mainly genetic variations that lead to apparently abnormal laboratory test values (e.g., dysalbuminemic euthyroidal hyperthyroxinemia). Braces, "{ }", indicate mutations that contribute to susceptibility to multifactorial disorders (e.g., diabetes, asthma) or to susceptibility to infection (e.g., malaria). A question mark, "?", before the phenotype name indicates that the relationship between the phenotype and gene is provisional. More details about this relationship are provided in the comment field of the map and in the gene and phenotype OMIM entries. 12/12