Bilateral congenital or childhood onset cataracts
Gene: SLC33A1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 42, autosomal dominant, 612539; Congenital cataracts, hearing loss, and neurodegeneration, 614482
Publications
Variants in this GENE are reported as part of current diagnostic practice
Is on the Manchester congenital cataracts gene panel and is a confirmed DD gene for AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN.Created: 28 Apr 2016, 11:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital cataracts hearing loss and neurodegeneration; AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN
This gene has been classified as Green List (High Evidence).
Publications for SLC33A1 were set to Huppke et al (2012) Am. J. Hum. Genet. 90: 61-68
Phenotypes for SLC33A1 were set to Spastic paraplegia 42, autosomal dominant, 612539;Congenital cataracts, hearing loss, and neurodegeneration, 614482;Congenital cataracts hearing loss and neurodegeneration; AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN
Mode of inheritance for SLC33A1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SLC33A1 was added to Cataractspanel. Sources: UKGTN
SLC33A1 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen