Bilateral congenital or childhood onset cataracts
Gene: GJA1EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 25 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Ocular phenotype is microphthalmia and/or microcorneaCreated: 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)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Oculodentodigital dysplasia, OMIM:164200
- Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
- OMIM
- 121014
- Clinvar variants
- Variants in GJA1
- Penetrance
- Complete
- Publications
-
- Paznekas et al (2009) Hum Mutat30:724-733
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Palmoplantar keratodermas
- Clefting
- Monogenic hearing loss
- Familial non syndromic congenital heart disease
- Primary lymphoedema
- Intellectual disability
- Inherited white matter disorders
- Corneal abnormalities
- Skeletal dysplasia
- Adult onset leukodystrophy
- Structural eye disease
- Palmoplantar keratoderma and erythrokeratodermas
- Fetal anomalies
- Familial cicatricial alopecia
- Ichthyosis and erythrokeratoderma
- Pigmentary skin disorders
- Mosaic skin disorders - deep sequencing
- Bilateral congenital or childhood onset cataracts
- DDG2P
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Glaucoma (developmental)
- Limb disorders
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GJA1 were changed from Oculodentodigital Dysplasia to Oculodentodigital dysplasia, OMIM:164200; Oculodentodigital dysplasia, autosomal recessive, OMIM:257850
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for GJA1 were set to Oculodentodigital Dysplasia
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GJA1 were set to Paznekas et al (2009) Hum Mutat30:724-733
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for GJA1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()GJA1 was added to Cataractspanel. Sources: UKGTN