PMP22

peripheral myelin protein 22
OMIM: 601097, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red PMP22 in White matter disorders and cerebral calcification - narrow panel Version 1.32 Signed off v.1.12 on 2 Mar 2020 Component of the following Super Panels: White matter disorders - childhood onset	review	Unknown	Sources Expert Review Red Phenotypes Neuropathy,inflammatory demyelinating,139393
Red PMP22 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.87	review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Neuropathy,inflammatory demyelinating,139393
Red PMP22 in Fetal anomalies Version 1.185 Signed off v.1.92 on 21 Aug 2020	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red PAGE Additional Gene List Phenotypes Neuropathy, recurrent, with pressure palsies 162500 Charcot-Marie-Tooth disease, type 1A 118220 Charcot-Marie-Tooth disease, type 1E 118300 Dejerine-Sottas disease 145900 Neuropathy, inflammatory demyelinating 139393 Roussy-Levy syndrome 180800
Green PMP22 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.383	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH NHS GMS London North GLH Expert Review Green Eligibility statement prior genetic testing Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Expert list Phenotypes Neuropathy, inflammatory demyelinating, 139393 Charcot Marie Tooth disease, type 1A, 118220 Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800 Dejerine Sottas disease, 145900 Dejerine Sottas disease, 145900 Neuropathy, recurrent, with pressure palsies, 162500 Neuropathy, recurrent, with pressure palsies, 162500 Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800 Neuropathy, inflammatory demyelinating, 139393
Amber PMP22 in Hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 2.146 Signed off v.2.5 on 13 Feb 2020	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Phenotypes Charcot-Marie-Tooth disease, type 1E OMIM:118300 Charcot-Marie-Tooth disease type 1E MONDO:0007311
Red PMP22 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.740 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Charcot-Marie-Tooth disease, type 1A, 118220 Dejerine-Sottas disease, 145900 Neuropathy, recurrent, with pressure palsies, 162500 Charcot-Marie-Tooth disease, type 1E, 118300 Roussy-Levy syndrome, 180800 Neuropathy, inflammatory demyelinating, 139393
Green PMP22 in Hereditary neuropathy NOT PMP22 copy number Version 1.21 Signed off v.1.2 on 27 Feb 2020	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen South West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list London North GLH Illumina TruGenome Clinical Sequencing Services NHS GMS South West GLH NHS GMS London North GLH Phenotypes Dejerine Sottas disease, 145900 Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800 Neuropathy, recurrent, with pressure palsies, 162500 Charcot Marie Tooth disease, type 1A, 118220 Neuropathy, inflammatory demyelinating, 139393
Green PMP22 in Severe Paediatric Disorders Version 1.43	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Charcot-Marie-Tooth disease, type 1E, 118300 ?Neuropathy, inflammatory demyelinating, 139393 Dejerine-Sottas disease, 145900 Roussy-Levy syndrome, 180800 Neuropathy, recurrent, with pressure palsies, 162500 Charcot-Marie-Tooth disease, type 1A, 118220