Leukodystrophy - adult onset
Gene: GJA1EnsemblGeneIds (GRCh38): ENSG00000152661
EnsemblGeneIds (GRCh37): ENSG00000152661
OMIM: 121014, Gene2Phenotype
GJA1 is in 20 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
8 individuals from 5 families with oculodentodigital dysplasia presenting in adulthood with onset of spastic paraplegia and white matter changes on imaging.Created: 4 May 2020, 11:10 p.m. | Last Modified: 4 May 2020, 11:10 p.m.
Panel Version: 0.50
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary spastic paraplegia; Oculodentodigital dysplasia, autosomal recessive, MIM#257850
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Hereditary spastic paraplegia
- Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gja1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850 to Hereditary spastic paraplegia; Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GJA1 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GJA1 was added gene: GJA1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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, Oculodentodigital dysplasia, autosomal recessive, 257850