Clefting
Gene: GJA1EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 25 panels
1 review
Louise Daugherty (Genomics England Curator)
Comment on list classification: Enough evidence in the literature to support this gene and disorder in the clefting panelCreated: 30 May 2017, 3:16 p.m.
Comment on publications: Paznekas et al. (2009) reported secondary features observed more frequently in these ODDD patients than in the general population included cleft palate (CP), seen in six unrelated ODDDindividuals (3% of 177 ODDD individuals). Also clefting noted in PMID:1057461 (one case) and PMID:12457340 2 cases (1 family) noted as having clefting.Created: 30 May 2017, 3:15 p.m.
Only added phenotypes associated to this gene where clefting is a featureCreated: 30 May 2017, 2:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Oculodentodigital dysplasia,164200
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Oculodentodigital dysplasia, OMIM:164200
- OMIM
- 121014
- Clinvar variants
- Variants in GJA1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Palmoplantar keratodermas
- Rare genetic inflammatory skin disorders
- Familial non syndromic congenital heart disease
- Limb disorders
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Corneal abnormalities
- Pigmentary skin disorders
- Clefting
- Bilateral congenital or childhood onset cataracts
- Palmoplantar keratoderma and erythrokeratodermas
- Ichthyosis and erythrokeratoderma
- Familial cicatricial alopecia
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Monogenic hearing loss
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Glaucoma (developmental)
- Skeletal dysplasia
- Primary lymphoedema
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia,164200; ODDD to Oculodentodigital dysplasia, OMIM:164200
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for GJA1 were set to Oculodentodigital dysplasia,164200; ODDD
Upload gene information
Louise Daugherty (Genomics England Curator)GJA1 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Set publications
Louise Daugherty (Genomics England Curator)Publications for GJA1 were set to 19338053; 12457340;15108203;1057461
Added New Source
Louise Daugherty (Genomics England Curator)GJA1 was added to Cleftingpanel. Sources: Expert list
Created
Louise Daugherty (Genomics England Curator)GJA1 was created by LouiseD