Undiagnosed metabolic disorders
Gene: VIPAS39EnsemblGeneIds (GRCh38): ENSG00000151445
EnsemblGeneIds (GRCh37): ENSG00000151445
OMIM: 613401, Gene2Phenotype
VIPAS39 is in 17 panels
2 reviews
Catherine Snow (Genomics England)
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, 11:21 a.m. | Last Modified: 16 Oct 2019, 11:21 a.m.
Panel Version: 1.383
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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, 2:04 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404
- ARC syndrome
- Inherited bleeding disorders
- OMIM
- 613401
- Clinvar variants
- Variants in VIPAS39
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Arthrogryposis
- Inherited bleeding disorders
- Neonatal cholestasis
- Fetal anomalies
- Proteinuric renal disease
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
- Nephrocalcinosis or nephrolithiasis
- Cholestasis
- Unexplained kidney failure in young people
- Bleeding and platelet disorders
- DDG2P
- Renal tubulopathies
- Likely inborn error of metabolism
- Ichthyosis and erythrokeratoderma
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: VIPAS39 were changed from ARC Syndrome (Other metabolic disorders); Arthrogryposis; Inherited bleeding disorders to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404; ARC syndrome; Inherited bleeding disorders
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: vipas39 has been classified as Green List (High Evidence).
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)VIPAS39 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber Model of inheritance for gene VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Created
Sarah Leigh (Genomics England Curator)VIPAS39 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)VIPAS39 was added to Undiagnosed metabolic disorderspanel. Sources: Literature