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Intellectual disability syndromic and non-syndromic

Gene: GJB1

Red List (low evidence)

GJB1 (gap junction protein beta 1)
EnsemblGeneIds (GRCh38): ENSG00000169562
EnsemblGeneIds (GRCh37): ENSG00000169562
OMIM: 304040, Gene2Phenotype
GJB1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

PMID 26385972 reports cognitive impairment in 4 adult cases and PMID 23279342 reports a proband and her sister with severe neuropathy and subclinical cognitive impairment, while the proband's brother showed severe cognitive impairment and mild neuropathy. Based on the current evidence, ID does not appear to be a prominent or consistent part of the phenotype of this neuropathy.
Created: 4 Feb 2020, 9:24 p.m. | Last Modified: 4 Feb 2020, 9:24 p.m.
Panel Version: 0.1977
XL-dominant, ID is not typically part of the phenotype.
Created: 4 Dec 2019, 9:43 a.m. | Last Modified: 4 Dec 2019, 9:43 a.m.
Panel Version: 0.282

Mode of inheritance
Other

Phenotypes
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800
OMIM
304040
Clinvar variants
Variants in GJB1
Penetrance
None
Panels with this gene

History Filter Activity

4 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gjb1 has been classified as Red List (Low Evidence).

4 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GJB1 were changed from to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800

4 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gjb1 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GJB1 was added gene: GJB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GJB1 was set to Unknown