Hand and foot malformations
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
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Hypoplastic left heart syndrome 1 241550
- Syndactyly, type III 186100
- Oculodentodigital dysplasia 164200
- Palmoplantar keratoderma with congenital alopecia 104100
- Craniometaphyseal dysplasia, autosomal recessive 218400
- Erythrokeratodermia variabilis et progressiva 133200
- Oculodentodigital dysplasia, autosomal recessive 257850
- OMIM
- 121014
- Clinvar variants
- Variants in GJA1
- Penetrance
- None
- 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
22 Sep 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GJA1 was added gene: GJA1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJA1 were set to Hypoplastic left heart syndrome 1 241550; Syndactyly, type III 186100; Oculodentodigital dysplasia 164200; Palmoplantar keratoderma with congenital alopecia 104100; Craniometaphyseal dysplasia, autosomal recessive 218400; Erythrokeratodermia variabilis et progressiva 133200; Oculodentodigital dysplasia, autosomal recessive 257850