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Fetal anomalies

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 13 panels

1 review

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Recessives condition associated with congenital cataract, bilateral hearing loss, and intellectual disability. Both congenital cataract and cerebellar atrophy may be detected on fetal ultrasound.
Created: 12 Jan 2022, 10:26 p.m. | Last Modified: 12 Jan 2022, 10:26 p.m.
Panel Version: 0.1966

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, OMIM#614482

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 12 Jan 2022, 10:26 p.m.
Last Modified: 12 Jan 2022, 10:26 p.m.
Panel version: 0.1966

History Filter Activity

13 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC33A1 were changed from CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, OMIM#614482 to Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482

12 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: slc33a1 has been classified as Green List (High Evidence).

12 Jan 2022, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: SLC33A1 were changed from AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN to CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, OMIM#614482

12 Jan 2022, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: SLC33A1 were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC33A1 was added gene: SLC33A1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC33A1 were set to AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN