Deafness_IsolatedAndComplex
Gene: GJB1
Although it is not a prominent feature of the condition, sensorineural hearing loss demonstrated by BAEP has been reported in at least 6 unrelated cases, and segregated in multiple individuals in a additional single family (all missense variants reported).Created: 13 Nov 2020, 3:36 a.m. | Last Modified: 13 Nov 2020, 3:36 a.m.
Panel Version: 0.7
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800
Publications
XLD, deafness is a rare feature.Created: 2 Jan 2020, 4:21 a.m. | Last Modified: 2 Jan 2020, 4:21 a.m.
Panel Version: 0.193
Mode of inheritance
Other
Phenotypes
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800
Phenotypes for gene: GJB1 were changed from Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; MONDO:0010549
Publications for gene: GJB1 were set to
Mode of inheritance for gene: GJB1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of inheritance for gene: GJB1 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Gene: gjb1 has been classified as Green List (High Evidence).
Gene: gjb1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: GJB1 were changed from Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800
Mode of inheritance for gene: GJB1 was changed from Unknown to Other
Phenotypes for gene: GJB1 were changed from to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800
Gene: gjb1 has been classified as Amber List (Moderate Evidence).
gene: GJB1 was added gene: GJB1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: GJB1 was set to Unknown