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Inborn errors of metabolism

Gene: TTC37

Green List (high evidence)

TTC37 (tetratricopeptide repeat domain 37)
EnsemblGeneIds (GRCh38): ENSG00000198677
EnsemblGeneIds (GRCh37): ENSG00000198677
OMIM: 614589, Gene2Phenotype
TTC37 is in 10 panels

2 reviews

Catherine Snow (Genomics England)

Green List (high evidence)

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

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, 2:04 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Infantile enterocolitis & monogenic inflammatory bowel disease
  • Trichohepatoenteric syndrome 1 (Other metabolic disorders)
OMIM
614589
Clinvar variants
Variants in TTC37
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: ttc37 has been classified as Green List (High Evidence).

17 Oct 2019, Gel status: 2

Set publications

Catherine Snow (Genomics England)

Publications for gene: TTC37 were set to 27604308

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TTC37. Source London North GLH was added to TTC37.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

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)