Bilateral congenital or childhood onset cataracts
Gene: ALDH18A1
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
autosomal dominant cutis laxa-3 (ADCL3); autosomal recessive cutis laxa type III (ARCL3)
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: From reviewer.Created: 14 Jun 2016, 12:08 p.m.
Is on the Manchester congenital cataracts gene panel, and it is a confirmed DD gene for Cutis laxa, autosomal dominant 3.Created: 28 Apr 2016, 11:45 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ALDH18A1 were changed from Autosomal dominant cutis laxa-3 (ADCL3); autosomal recessive cutis laxa type III (ARCL3) to Cutis laxa, autosomal dominant 3 OMIM:616603; cutis laxa, autosomal dominant 3 MONDO:0014706; Cutis laxa, autosomal recessive, type IIIA OMIM:219150; ALDH18A1-related de Barsy syndrome MONDO:0009053; Spastic paraplegia 9A, autosomal dominant OMIM:601162; hereditary spastic paraplegia 9A MONDO:0011006; Spastic paraplegia 9B, autosomal recessive OMIM:616586; autosomal recessive complex spastic paraplegia type 9B MONDO:0014702
This gene has been classified as Green List (High Evidence).
Phenotypes for ALDH18A1 were set to Autosomal dominant cutis laxa-3 (ADCL3); autosomal recessive cutis laxa type III (ARCL3)
Mode of inheritance for ALDH18A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for ALDH18A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
ALDH18A1 was added to Cataractspanel. Sources: UKGTN