PMP22

peripheral myelin protein 22
OMIM: 601097, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green PMP22 in Mendeliome Version 1.4541	4 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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
Green PMP22 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.332	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, type 1E 118300
Green PMP22 in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 1.186 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Royal Melbourne Hospital 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
Green PMP22 in Additional findings_Paediatric Level 2: Screening Version 0.280	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease
Red PMP22 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.147	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene 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