Miscellaneous Metabolic Disorders

Gene: SC5D

Green List (high evidence)

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.
Sources: Expert Review
Created: 6 Feb 2021, 3:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lathosterolosis, MIM# 607330

Publications

History Filter Activity

6 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sc5d has been classified as Green List (High Evidence).

6 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sc5d has been classified as Green List (High Evidence).

6 Feb 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SC5D was added gene: SC5D was added to Miscellaneous Metabolic Disorders. Sources: Expert Review Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SC5D were set to 17853487; 12189593; 12812989; 24142275 Phenotypes for gene: SC5D were set to Lathosterolosis, MIM# 607330 Review for gene: SC5D was set to GREEN