Lymphoedema_syndromic
Gene: GJA1
GJA1 (gap junction protein alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 20 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- London South GLH
- Expert list
- Phenotypes
-
- Oculodentodigital dysplasia 164200
- OMIM
- 121014
- Clinvar variants
- Variants in GJA1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Clefting disorders
- Prepair 1000+
- Lymphoedema_syndromic
- Brain Calcification
- BabyScreen+ newborn screening
- Lymphoedema_nonsyndromic
- Intellectual disability syndromic and non-syndromic
- Hand and foot malformations
- Palmoplantar Keratoderma and Erythrokeratoderma
- Anophthalmia_Microphthalmia_Coloboma
- Hereditary Spastic Paraplegia - adult onset
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mosaic skin disorders
- Mendeliome
- Cataract
History Filter Activity
29 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sue White (Victorian Clinical Genetics Services)gene: GJA1 was added gene: GJA1 was added to Lymphoedema_syndromic. Sources: Expert list,London South GLH,Expert Review Green Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GJA1 were set to 23550541 Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia 164200