PMP22

peripheral myelin protein 22
OMIM: 601097, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green PMP22 in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 1A, MIM# 118220 Charcot-Marie-Tooth disease, type 1E, MIM# 118300 Dejerine-Sottas disease, MIM# 145900 Neuropathy, recurrent, with pressure palsies 162500 Roussy-Levy syndrome 180800 Tags SV/CNV
Amber PMP22 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Amber Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 1E 118300
Green PMP22 in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.48 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Charcot Marie Tooth disease, type 1A, 118220 Roussy Levy syndrome, 180800 Neuropathy, inflammatory demyelinating, 139393 Neuropathy, recurrent, with pressure palsies, 162500 Charcot Marie Tooth disease, type 1E, 118300 Dejerine Sottas disease, 145900 HMSN Tags SV/CNV
Green PMP22 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease
Green PMP22 in Auditory Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 1.1	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Syndromic auditory neuropathy spectrum disorder
Red PMP22 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Charcot-Marie-Tooth disease, type 1E, MIM# 118300 Roussy-Levy syndrome 180800 Neuropathy, recurrent, with pressure palsies 162500 Dejerine-Sottas disease, MIM# 145900 Charcot-Marie-Tooth disease, type 1A, MIM# 118220