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Intellectual disability

Gene: GJB1

Amber List (moderate evidence)

GJB1 (gap junction protein beta 1)
EnsemblGeneIds (GRCh38): ENSG00000169562
EnsemblGeneIds (GRCh37): ENSG00000169562
OMIM: 304040, Gene2Phenotype
GJB1 is in 8 panels

7 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

ID is not a consistent or prominent part of the phenotype; remains to be established whether this gene is causative of moderate/severe ID with/without CMT.
Created: 4 Feb 2020, 9:21 p.m. | Last Modified: 4 Feb 2020, 9:21 p.m.
Panel Version: 3.0

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

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: Added phenotype from Sarah Leigh (Genomics England), 5 Mar 2018 review
Created: 14 Mar 2018, 11:55 a.m.

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.

Caroline Wright (Sanger)

Red List (low evidence)

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_movement_disorder_list;in_UKGTN_v12 . Main mutation mechanism : NA
Created: 27 Jul 2017, 6:15 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : manju_list; UKGTN_v12; Nijmegen_ID_diagnostic; GEL_ID_red_20160217; neuro_20160418_strict; NA. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:32 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

  • Personal communication with NIHRBRRD BRIDGE SPEED
  • Version 12 ukgtn.nhs.uk

Lu Raymond (university of cambridge )

Red List (low evidence)

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
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800
OMIM
304040
Clinvar variants
Variants in GJB1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Mar 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800

14 Mar 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for GJB1 were set to 26503795; 23279342; 26385972

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 2

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to GJB1. Panel: Intellectual disability Model of inheritance for gene GJB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GJB1 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GJB1 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen