Likely inborn error of metabolism - targeted testing not possible
Gene: TTPA
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: 14 Oct 2019, 1:33 p.m. | Last Modified: 14 Oct 2019, 1:33 p.m.
Panel Version: 1.351
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia with isolated vitamin E deficiency, 277460
Publications
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
Hereditary ataxia
Gene: ttpa has been classified as Green List (High Evidence).
Gene: ttpa has been classified as Green List (High Evidence).
Gene: ttpa has been classified as Green List (High Evidence).
Publications for gene: TTPA were set to 27604308
Gene: ttpa has been classified as Green List (High Evidence).
Source NHS GMS was added to TTPA. Source London North GLH was added to TTPA.
Sarah Leigh: Associated with phenotype in O
gene: TTPA was added gene: TTPA was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTPA were set to 27604308 Phenotypes for gene: TTPA were set to TTP1 deficiency (Other disorders of vitamins and cofactors); Hereditary ataxia