UKGTN Testing Criteria

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Kristopher Byrd
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1 UKGTN Testing Criteria Test name: Hereditary Motor and Sensory Neuropathy Gene Panel Approved name and symbol of disorder/condition(s): See Appendix 1 Approved name and symbol of gene(s): See Appendix 2 OMIM number(s): See Appendix 1 OMIM number(s): See Appendix 2 Patient name: Patient postcode: Date of birth: NHS number: Name of referrer: Title/Position: Lab ID: Referrals will only be accepted from one of the following: Referrer Consultant Paediatric Neurologist Consultant Adult Neurologist Consultant Clinical Geneticist Tick if this refers to you. Minimum criteria required for testing to be appropriate as stated in the Gene Dossier: Criteria Hereditary Motor & Sensory Neuropathy: Autonomic Neuropathy Axonal Neuropathy Demyelinating Neuropathy Demyelinating Neuropathy and Axonal Neuropathy HMSN-associated conditions Motor & Sensory Neuropathy Pure Motor Neuropathy Tick if this patient meets criteria Additional Information: For panel tests: At risk family members where familial mutation is known do not require a full panel test but should be offered analysis of the known mutation If the sample does not fulfil the clinical criteria or you are not one of the specified types of referrer and you still feel that testing should be performed please contact the laboratory to discuss testing of the sample.

2 Appendix 1 - Conditions included in panel test Hereditary Motor and Sensory Neuropathy 49 Gene Panel OMIM standard name of condition and symbol OMIM number 46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY ,XY SEX REVERSAL 7; SRXY AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED AMYOTROPHIC LATERAL SCLEROSIS 1; ALS AMYOTROPHIC LATERAL SCLEROSIS 11; ALS AMYOTROPHY, HEREDITARY NEURALGIC; HNA ARTS SYNDROME; ARTS BRACHYOLMIA TYPE CARDIOMYOPATHY, DILATED, 1A; CMD1A CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM CARPAL TUNNEL SYNDROME; CTS CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1; CMT2B CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CMT2B CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E; CMT2E CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F; CMT2F CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I; CMT2I CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J; CMT2J CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L; CMT2L CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N; CMT2N CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F; CMT1F CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F; CMT4F CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; CMTDIB CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C; CMTDIC CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D; CMTDID

3 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A; CMTRIA CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B; CMTRIB CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY DEAFNESS, X-LINKED 1; DFNX DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD EMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE, INCLUDED GIANT AXONAL NEUROPATHY 1; GAN GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS HEART-HAND SYNDROME, SLOVENIAN TYPE HEREDITARY MOTOR AND SENSORY NEUROPATHY VI HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; HMSN2C HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA METATROPIC DYSPLASIA MONONEUROPATHY OF THE MEDIAN NERVE, MILD; MNMN MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B MYOPATHY, CENTRONUCLEAR, 1; CNM NEUROBLASTOMA, SUSCEPTIBILITY TO NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA; HMN5A NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB; HMN5B NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB; HMN7B NEUROPATHY, CONGENITAL HYPOMYELINATING NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A

4 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP OCCIPITAL HORN SYNDROME; OHS PARASTREMMATIC DWARFISM PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH PEROXISOME BIOGENESIS DISORDER 9B; PBD9B PERRY SYNDROME PHEOCHROMOCYTOMA PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY PSEUDOHYPOALDOSTERONISM, TYPE IIC; PHA2C REFSUM DISEASE, CLASSIC RESTRICTIVE DERMOPATHY, LETHAL RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; SMAX THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC VERTICAL TALUS, CONGENITAL; CVT

5 Appendix 2 - Genes included in panel test Hereditary Motor and Sensory Neuropathy 49 Gene Panel HGNC OMIM HGNC standard name and symbol of the gene number number Alanyl-tRNA synthetase AARS Rho guanine nucleotide exchange factor (GEF) 10 ARHGEF ATPase, Cu++ transporting, alpha polypeptide ATP7A Chromosome 10 open reading frame 2 C10ORF CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 CTDP Dynactin 1 DCTN Desert hedgehog DHH Dynamin 2 DNM Early growth response 2 EGR FYVE, RhoGEF and PH domain containing 4 FGD FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) FIG Gigaxonin GAN Glycyl-tRNA synthetase GARS Ganglioside induced differentiation associated protein 1 GDAP Gap junction protein, beta 1, 32kDa GJB Heat shock 27kDa protein 1 HSPB Heat shock 22kDa protein 8 HSPB Homeobox D10 HOXD Immunoglobulin mu binding protein 2 IGHMBP Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein IKBKAP Lysyl-tRNA synthetase KARS Lipopolysaccharide-induced TNF factor LITAF Lamin A/C LMNA Mediator complex subunit 25 MED Mitofusin 2 MFN Myelin protein zero MPZ Myotubularin related protein 2 MTMR N-myc downstream regulated 1 NDRG Neurofilament, light polypeptide NEFL Nerve growth factor (beta polypeptide) NGF Neurotrophic tyrosine kinase, receptor, type 1 NTRK Peroxisomal biogenesis factor 7 PEX Phytanoyl-CoA 2-hydroxylase PHYH Pleckstrin homology domain containing, family G (with RhoGef domain) member 5 PLEKHG Peripheral myelin protein 22 PMP Phosphoribosyl pyrophosphate synthetase 1 PRPS

6 Periaxin PRX RAB7A, member RAS oncogene family RAB7A SET binding factor 2 SBF Septin 9 SEPT SH3 domain and tetratricopeptide repeats 2 SH3TC SRY (sex determining region Y)-box 10 SOX Spastin SPAST tyrosyl-dna phosphodiesterase 1 TDP Transient receptor potential cation channel, subfamily V, member 4 TRPV Tyrosyl-tRNA synthetase YARS WNK lysine deficient protein kinase 1 WNK

Table of Contents. 1 Architecture of the peripheral nerve P. Young, M. Boentert

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