MAC-ASD panel. 16-Apr-2018 (59 genen) Centrum voor Medische Genetica Gent. versie. OMIM gene ID

Transcription

1 versie 16-Apr-2018 (59 genen) MAC-ASD panel Centrum voor Medische Genetica Gent Gene OMIM gene ID Associated phenotype, OMIM phenotype ID, phenotype mapping key and inheritance pattern ABCB [Blood group, Langereis system], (3); Dyschromatosis universalis hereditaria 3, (3), Autosomal ; Microphthalmia, isolated, with coloboma 7, (3), Autosomal ; Pseudohyperkalemia, familial, 2, due to red cell leak, (3), Autosomal ADAMTS Microcornea, myopic chorioretinal atrophy, and telecanthus, (3), ALDH1A Microphthalmia, isolated 8, (3), ASPH Traboulsi syndrome, (3), ATOH Persistent hyperplastic primary vitreous, autosomal, (3), B3GLCT Peters-plus syndrome, (3), BCOR Microphthalmia, syndromic 2, (3), X-linked BMP Microphthalmia, syndromic 6, (3), Autosomal ; Orofacial cleft 11, (3) BMP No OMIM phenotype C12orf Temtamy syndrome, (3), CHD CHARGE syndrome, (3), Autosomal ; Hypogonadotropic hypogonadism 5 with or without anosmia, (3), Autosomal COL4A Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, (3), Autosomal ; Brain small vessel disease with or without ocular anomalies, (3), Autosomal ; {Hemorrhage, intracerebral, susceptibility to}, (3); Porencephaly 1, (3), Autosomal ;?Retinal arteries, tortuosity of, (3), Autosomal COX7B Linear skin defects with multiple congenital anomalies 2, (3), X- linked CRYBA Cataract 23, (3) CYP1B Anterior segment dysgenesis 6, multiple subtypes, (3); Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, (3), 1/5

2 EYA FKTN FOXC FOXE FOXL GDF GDF HCCS HESX IKBKG Anterior segment anomalies with or without cataract, (3), Autosomal ; Branchiootic syndrome 1, (3), Autosomal ; Branchiootorenal syndrome 1, with or without cataracts, (3), Autosomal ;?Otofaciocervical syndrome, (3), Autosomal Cardiomyopathy, dilated, 1X, (3), ; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, (3), ; Muscular dystrophydystroglycanopathy (congenital without mental retardation), type B, 4, (3), ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, (3), Anterior segment dysgenesis 3, multiple subtypes, (3), Autosomal ; Axenfeld-Rieger syndrome, type 3, (3), Autosomal Anterior segment dysgenesis 2, multiple subtypes, (3), Autosomal ; {Aortic aneurysm, familial thoracic 11, susceptibility to}, (3), Autosomal ; Cataract 34, multiple types, (3) Blepharophimosis, epicanthus inversus, and ptosis, type 1, (3), Autosomal ; Blepharophimosis, epicanthus inversus, and ptosis, type 2, (3), Autosomal ; Premature ovarian failure 3, (3), Autosomal Klippel-Feil syndrome 3, autosomal, (3); Microphthalmia with coloboma 6, (3), Autosomal ; Microphthalmia, isolated 7, (3), Autosomal Klippel-Feil syndrome 1, autosomal, (3), Autosomal ; Leber congenital amaurosis 17, (3), Autosomal ; Microphthalmia with coloboma 6, digenic, (3), Autosomal ; Microphthalmia, isolated 4, (3) Linear skin defects with multiple congenital anomalies 1, (3), X- linked Growth hormone deficiency with pituitary anomalies, (3),, Autosomal ; Pituitary hormone deficiency, combined, 5, (3),, Autosomal ; Septooptic dysplasia, (3),, Autosomal Ectodermal dysplasia, hypohidrotic, with immune deficiency, (3); Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, (3); Immunodeficiency 33, (3), X-linked ; Immunodeficiency, isolated, (3); Incontinentia pigmenti, (3), X-linked ; Invasive pneumococcal disease, recurrent isolated, 2, (3) 2/5

3 LTBP MAB21L MAF MFRP NAA NHS OTX PAX PAX PITX PITX POMGNT Glaucoma 3, primary congenital, D, (3); Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, (3), ; Weill-Marchesani syndrome 3,, (3), Microphthalmia/coloboma and skeletal dysplasia syndrome, (3),, Autosomal Ayme-Gripp syndrome, (3), Autosomal ; Cataract 21, multiple types, (3), Autosomal Microphthalmia, isolated 5, (3), ; Nanophthalmos 2, (3)?Microphthalmia, syndromic 1, (3), X-linked; Ogden syndrome, (3), X-linked, X-linked Cataract 40, X-linked, (3), X-linked; Nance-Horan syndrome, (3), X-linked Microphthalmia, syndromic 5, (3), Autosomal ; Pituitary hormone deficiency, combined, 6, (3), Autosomal ; Retinal dystrophy, early-onset, with or without pituitary dysfunction, (3), Autosomal Glomerulosclerosis, focal segmental, 7, (3), Autosomal ; Papillorenal syndrome, (3), Autosomal Aniridia, (3), Autosomal ; Anterior segment dysgenesis 5, multiple subtypes, (3); Cataract with late-onset corneal dystrophy, (3), Autosomal ;?Coloboma of optic nerve, (3), Autosomal ;?Coloboma, ocular, (3), Autosomal ; Foveal hypoplasia 1, (3), Autosomal ; Keratitis, (3), Autosomal ;?Morning glory disc anomaly, (3), Autosomal ; Optic nerve hypoplasia, (3), Autosomal Anterior segment dysgenesis 4, (3), Autosomal ; Axenfeld-Rieger syndrome, type 1, (3), Autosomal ; Ring dermoid of cornea, (3), Autosomal Anterior segment dysgenesis 1, multiple subtypes, (3), Autosomal ; Cataract 11, multiple types, (3), Autosomal ; Cataract 11, syndromic, (3), Autosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, (3), ; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, (3), ; Muscular dystrophydystroglycanopathy (limb-girdle), type C, 3, (3), Autosomal ; Retinitis pigmentosa 76, (3), 3/5

4 POMT Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, (3), ; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, (3), ; Muscular dystrophydystroglycanopathy (limb-girdle), type C, 1, (3), Autosomal PORCN Focal dermal hypoplasia, (3), X-linked PRSS Microphthalmia, isolated 6, (3), PXDN Anterior segment dysgenesis 7, with sclerocornea, (3), Autosomal RAB3GAP Warburg micro syndrome 1, (3), RAB3GAP Martsolf syndrome, (3), ; Warburg micro syndrome 2, (3), RARB Microphthalmia, syndromic 12, (3),, Autosomal RAX Microphthalmia, isolated 3, (3), RBP Microphthalmia, isolated, with coloboma 10, (3), Autosomal ; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, (3), SALL ?Coloboma, ocular, autosomal, (3), SHH Holoprosencephaly 3, (3), Autosomal ; Microphthalmia with coloboma 5, (3), Autosomal ; Schizencephaly, (3); Single median maxillary central incisor, (3), Autosomal SIX Optic disc anomalies with retinal and/or macular dystrophy, (3), SLC38A Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, (3), SMOC Microphthalmia with limb anomalies, (3), SOX Microphthalmia, syndromic 3, (3), Autosomal ; Optic nerve hypoplasia and abnormalities of the central nervous system, (3), Autosomal STRA Microphthalmia, isolated, with coloboma 8, (3), Autosomal ; Microphthalmia, syndromic 9, (3), TENM Microphthalmia, isolated, with coloboma 9, (3), Autosomal TFAP2A Branchiooculofacial syndrome, (3), Autosomal VAX ?Microphthalmia, syndromic 11, (3), VSX ?Craniofacial anomalies and anterior segment dysgenesis syndrome, (3); Keratoconus 1, (3), Autosomal 4/5

5 VSX YAP Microphthalmia with coloboma 3, (3); Microphthalmia, isolated 2, (3) Coloboma, ocular, (3), Autosomal ; Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, (3), Autosomal 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. 5/5