Likely inborn error of metabolism - targeted testing not possible
Gene: SC5DComment 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
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
Gene: sc5d has been classified as Green List (High Evidence).
Publications for gene: SC5D were set to 27604308
Phenotypes for gene: SC5D were changed from Lathosterolosis (Disorders of sterol biosynthesis); Intellectual disability; Cataracts to Lathosterolosis, 607330; Intellectual disability; Cataracts
Source NHS GMS was added to SC5D. Source London North GLH was added to SC5D.
Sarah Leigh: Associated with relevant pheno
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