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Inborn errors of metabolism

Gene: SC5D

Green List (high evidence)

SC5D (sterol-C5-desaturase)
EnsemblGeneIds (GRCh38): ENSG00000109929
EnsemblGeneIds (GRCh37): ENSG00000109929
OMIM: 602286, Gene2Phenotype
SC5D is in 9 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Amber to Green. This gene is associated with a relevant disease on OMIM and Gene2Phenotype and there is enough evidence to support a gene-disease association.

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Created: 20 Sep 2019, 12:56 p.m. | Last Modified: 20 Sep 2019, 12:56 p.m.
Panel Version: 1.277
Comment on publications: There are >3 unrelated cases and an animal model.
Created: 20 Sep 2019, 12:54 p.m. | Last Modified: 20 Sep 2019, 12:54 p.m.
Panel Version: 1.276

Sarah Leigh (Genomics England Curator)

Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:02 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:02 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:01 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Lathosterolosis, 607330
  • Intellectual disability
  • Cataracts
OMIM
602286
Clinvar variants
Variants in SC5D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

20 Sep 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SC5D were set to 27604308

20 Sep 2019, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SC5D were changed from Lathosterolosis (Disorders of sterol biosynthesis); Intellectual disability; Cataracts to Lathosterolosis, 607330; Intellectual disability; Cataracts

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SC5D. Source London North GLH was added to SC5D.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: SC5D was added gene: SC5D was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SC5D were set to 27604308 Phenotypes for gene: SC5D were set to Lathosterolosis (Disorders of sterol biosynthesis); Intellectual disability; Cataracts