Primary lymphoedema
Gene: GJA1EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 25 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Pia Ostergaard (St George's)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
oculodentodigital syndrome with primary lymphoedema
Publications
- [PMID: 23550541]
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Also associated with Atrioventricular septal defect 3 600309, Craniometaphyseal dysplasia, autosomal recessive 218400, Erythrokeratodermia variabilis et progressiva 133200, Hypoplastic left heart syndrome 1 241550, Oculodentodigital dysplasia, autosomal recessive 257850, Palmoplantar keratoderma with congenital alopecia 104100, Syndactyly, type III 186100Created: 2 Nov 2016, 9:35 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London South GLH
- Expert Review Green
- 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 publications
Arina Puzriakova (Genomics England Curator)Publications for gene: GJA1 were set to 23550541
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia 164200 to Oculodentodigital dysplasia, OMIM:164200
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia with primary lymphoedem 164200 to Oculodentodigital dysplasia 164200
Added New Source, Status Update
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to GJA1. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GJA1 were set to Oculodentodigital dysplasia with primary lymphoedem 164200
Set publications
Sarah Leigh (Genomics England Curator)Publications for GJA1 were set to 23550541
Created
Sarah Leigh (Genomics England Curator)GJA1 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)GJA1 was added to Lymphatic Disorderspanel. Sources: Expert list,Expert Review Green