Skeletal dysplasia
Gene: GJA1EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 20 panels
1 review
Chirag Patel (Genetic Health Queensland)
Oculodentodigital syndrome is characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding.
Multiple families reported.Created: 19 May 2022, 6:04 a.m. | Last Modified: 19 May 2022, 6:04 a.m.
Panel Version: 0.14592
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Oculodentodigital dysplasia, autosomal recessive, MIM# 257850; Oculodentodigital dysplasia, MIM# 164200
Publications
- PMID: 19338053
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- NHS GMS
- Expert list
- Phenotypes
-
- Oculodentodigital dysplasia 164200
- Erythrokeratodermia variabilis et progressiva 133200
- Palmoplantar keratoderma with congenital alopecia 104100
- Hypoplastic left heart syndrome 1 241550
- Oculodentodigital dysplasia, autosomal recessive 257850
- Craniometaphyseal dysplasia, autosomal recessive 218400
- Syndactyly, type III 186100
- 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
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GJA1 was added gene: GJA1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia 164200; Erythrokeratodermia variabilis et progressiva 133200; Palmoplantar keratoderma with congenital alopecia 104100; Hypoplastic left heart syndrome 1 241550; Oculodentodigital dysplasia, autosomal recessive 257850; Craniometaphyseal dysplasia, autosomal recessive 218400; Syndactyly, type III 186100