Intellectual disability update Jan 2018
Gene: GJB1EnsemblGeneIds (GRCh38): ENSG00000169562
EnsemblGeneIds (GRCh37): ENSG00000169562
OMIM: 304040, Gene2Phenotype
GJB1 is in 7 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Typical phenotype is not a good fit for this panel. I note the small number of reports of patients with more prominent ID than neuropathic presentation, however on the current evidence I would expect the greatest diagnostic yield to be from the presence of this gene on the CMT panel.Created: 6 Mar 2018, 5:05 p.m.
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P. Numerous variants reported in Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 302800, however, intellectual disability or cognitive impairment has only been reported in a minority of cases. 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.
Reported as a gene linked to isolated ID and ID associated disorders Vissers 2016 (PMID 26503795)Created: 5 Mar 2018, 12:34 p.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 302800
- OMIM
- 304040
- Clinvar variants
- Variants in GJB1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for GJB1 were set to 26503795; 23279342; 26385972
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for GJB1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 302800
Added New Source
Ellen McDonagh (Genomics England Curator)GJB1 was added to Intellectual disability update Jan 2018 panel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
Created
Ellen McDonagh (Genomics England Curator)GJB1 was created by Ellen McDonagh