Likely inborn error of metabolism - targeted testing not possible
Gene: SKIV2L
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.
Promoted from Amber to Green. SKIV2L is associated with an appropriate phenotype on OMIM. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.Created: 31 Oct 2019, 2:27 p.m. | Last Modified: 31 Oct 2019, 2:27 p.m.
Panel Version: 1.389
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichohepatoenteric syndrome 2, 614602
Publications
Added new-gene-name tag, new approved HGNC gene symbol for SKIV2L is SKIC2.Created: 30 Jun 2022, 3:39 p.m. | Last Modified: 30 Jun 2022, 4:05 p.m.
Panel Version: 2.259
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile enterocolitis & monogenic inflammatory bowel disease
Tag new-gene-name tag was added to gene: SKIV2L.
Gene: skiv2l has been classified as Green List (High Evidence).
Source NHS GMS was added to SKIV2L. Source London North GLH was added to SKIV2L.
Sarah Leigh: Associated with relevant pheno
gene: SKIV2L was added gene: SKIV2L was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SKIV2L were set to 27604308 Phenotypes for gene: SKIV2L were set to Infantile enterocolitis & monogenic inflammatory bowel disease; Trichohepatoenteric syndrome 2 (Other metabolic disorders)