Miscellaneous Metabolic Disorders
Gene: SC5D
SC5D (sterol-C5-desaturase)
EnsemblGeneIds (GRCh38): ENSG00000109929
EnsemblGeneIds (GRCh37): ENSG00000109929
OMIM: 602286, Gene2Phenotype
SC5D is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000109929
EnsemblGeneIds (GRCh37): ENSG00000109929
OMIM: 602286, Gene2Phenotype
SC5D is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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 ReviewCreated: 6 Feb 2021, 3:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lathosterolosis, MIM# 607330
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Lathosterolosis, MIM# 607330
- OMIM
- 602286
- Clinvar variants
- Variants in SC5D
- Penetrance
- None
- Publications
- Panels with this gene
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