GJB1

gap junction protein beta 1
OMIM: 304040, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green GJB1 in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800 MONDO:0010549 reversible posterior leukoencephalopathy
Green GJB1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 MONDO:0010549
Red GJB1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Expert Review Red Genetic Health Queensland Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800
Green GJB1 in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.140 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 Reversible posterior leukoencephalopathy
Green GJB1 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	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800 MONDO:0010549 HMSN
Green GJB1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth neuropathy
Green GJB1 in Auditory Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 1.1	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 MIM#302800 Syndromic auditory neuropathy spectrum disorder
Green GJB1 in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 (MIM#302800)
Red GJB1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red BabySeq Category A gene Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800
Green GJB1 in Prepair 500+ Level 2: Screening Version 1.1	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 (MIM#302800)