Cataracts

Gene: GJA1

Red List (low evidence)

GJA1 (gap junction protein alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 22 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Ocular phenotype is microphthalmia and/or microcornea
Created: 14 Jun 2016, 8:27 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Oculodentodigital Dysplasia

Publications

  • Paznekas et al (2009) Hum Mutat30:724-733

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Demoted to red due to expert review.
Created: 14 Jun 2016, 12:31 p.m.
Is on the Manchester congenital cataracts gene panel. Confirmed DD gene for AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA and HALLERMANN-STREIFF SYNDROME (include cataract as a phenotype).
Created: 29 Apr 2016, 11:52 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

History Filter Activity

14 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

14 Jun 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GJA1 were set to Oculodentodigital Dysplasia

14 Jun 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GJA1 were set to Paznekas et al (2009) Hum Mutat30:724-733

14 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GJA1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

13 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

GJA1 was added to Cataractspanel. Sources: UKGTN