Likely inborn error of metabolism - targeted testing not possible
Gene: VIPAS39
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. VIPAS39 is associated with an appropriate phenotype on OMIM and Gene2Phenotype. There are >23 cases in literature. Therefore, enough evidence for this gene to be promoted to Green status.Created: 16 Oct 2019, 11:16 a.m. | Last Modified: 16 Oct 2019, 11:19 a.m.
Panel Version: 1.359
Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
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, 2:04 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.
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
Inherited bleeding disorders
Publications for gene: VIPAS39 were set to 27604308
Gene: vipas39 has been classified as Green List (High Evidence).
Source NHS GMS was added to VIPAS39. Source London North GLH was added to VIPAS39.
Sarah Leigh: Associated with phenotype in O
gene: VIPAS39 was added gene: VIPAS39 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VIPAS39 were set to 27604308 Phenotypes for gene: VIPAS39 were set to Inherited bleeding disorders; ARC Syndrome (Other metabolic disorders); Arthrogryposis