Likely inborn error of metabolism - targeted testing not possible
Gene: TTC37
Not convinced this is IEM.Created: 31 Jan 2021, 7:04 a.m. | Last Modified: 31 Jan 2021, 7:04 a.m.
Panel Version: 2.51
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 associated with relevant phenotype in OMIM but no information in Gen2Phen. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.Created: 17 Oct 2019, 2:07 p.m. | Last Modified: 17 Oct 2019, 2:07 p.m.
Panel Version: 1.364
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichohepatoenteric syndrome 1, 222470
Publications
Added new-gene-name tag, new approved HGNC gene symbol for TTC37 is SKIC3.Created: 30 Jun 2022, 3:51 p.m. | Last Modified: 30 Jun 2022, 4 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, 2:04 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:03 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: TTC37.
Gene: ttc37 has been classified as Green List (High Evidence).
Publications for gene: TTC37 were set to 27604308
Source NHS GMS was added to TTC37. Source London North GLH was added to TTC37.
Sarah Leigh: Associated with phenotype in O
gene: TTC37 was added gene: TTC37 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC37 were set to 27604308 Phenotypes for gene: TTC37 were set to Infantile enterocolitis & monogenic inflammatory bowel disease; Trichohepatoenteric syndrome 1 (Other metabolic disorders)