Leukodystrophy - adult onset
Gene: GJA1
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
Gene: gja1 has been classified as Green List (High Evidence).
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
Publications for gene: GJA1 were set to
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