Cataracts

Gene: SLC33A1

Green List (high evidence)

SLC33A1 (solute carrier family 33 member 1)
EnsemblGeneIds (GRCh38): ENSG00000169359
EnsemblGeneIds (GRCh37): ENSG00000169359
OMIM: 603690, Gene2Phenotype
SLC33A1 is in 11 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

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)

Green List (high evidence)

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

History Filter Activity

14 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Jun 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SLC33A1 were set to Huppke et al (2012) Am. J. Hum. Genet. 90: 61-68

31 May 2016, Gel status: 4

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

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SLC33A1 was changed to BIALLELIC, autosomal or pseudoautosomal

13 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

SLC33A1 was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SLC33A1 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen