Bilateral congenital or childhood onset cataracts
Gene: SLC33A1EnsemblGeneIds (GRCh38): ENSG00000169359
EnsemblGeneIds (GRCh37): ENSG00000169359
OMIM: 603690, Gene2Phenotype
SLC33A1 is in 11 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 42, autosomal dominant, 612539; Congenital cataracts, hearing loss, and neurodegeneration, 614482
Publications
- Huppke et al (2012) Am. J. Hum. Genet. 90: 61-68
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- 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
- OMIM
- 603690
- Clinvar variants
- Variants in SLC33A1
- Penetrance
- Complete
- Publications
-
- Huppke et al (2012) Am. J. Hum. Genet. 90: 61-68
- Panels with this gene
-
- Mitochondrial disorders
- Hereditary spastic paraplegia
- DDG2P
- Structural eye disease
- Monogenic hearing loss
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SLC33A1 were set to Huppke et al (2012) Am. J. Hum. Genet. 90: 61-68
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SLC33A1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()SLC33A1 was added to Cataractspanel. Sources: UKGTN
Added New Source
GEL ()SLC33A1 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen