Cataract
Gene: SC5D

SC5D (sterol-C5-desaturase)
EnsemblGeneIds (GRCh38): ENSG00000109929
EnsemblGeneIds (GRCh37): ENSG00000109929
OMIM: 602286, Gene2Phenotype
SC5D is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Lathosterolosis (LATHOS) is an autosomal recessive disorder characterized by a recognizable pattern of multiple congenital anomalies involving axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. It is caused by a defect of cholesterol biosynthesis due to sterol C5-desaturase deficiency. More than 5 unrelated families reported.
Created: 6 Feb 2021, 3:54 a.m. | Last Modified: 6 Feb 2021, 3:54 a.m.

Panel Version: 0.262

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lathosterolosis, MIM# 607330

Publications

Created: 6 Feb 2021, 3:54 a.m.
Last Modified: 6 Feb 2021, 3:54 a.m.
Panel version: 0.262

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Lathosterolosis, MIM# 607330

OMIM

602286

Clinvar variants

Variants in SC5D

Penetrance

None

Publications

Panels with this gene