Clefting
Gene: PIGV
PIGV (phosphatidylinositol glycan anchor biosynthesis class V)
EnsemblGeneIds (GRCh38): ENSG00000060642
EnsemblGeneIds (GRCh37): ENSG00000060642
OMIM: 610274, Gene2Phenotype
PIGV is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000060642
EnsemblGeneIds (GRCh37): ENSG00000060642
OMIM: 610274, Gene2Phenotype
PIGV is in 11 panels
1 review
Olivia Niblock (Genomics England Curator)
Mutations in PIGV are linked to Hyperphosphatasia with mental retardation syndrome 1, within which cleft palate is listed as a rare phenotype. Literature paper (21739589) shows that 2 out of 6 patient cases listed showed orofacial clefting where a PIGV mutation was present. Literature paper (24129430) also suggestive of PIGV mutations present in patients with orofacial clefting.Created: 31 May 2017, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
- HPMRS1
- OMIM
- 610274
- Clinvar variants
- Variants in PIGV
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PIGV was created by ellenmcdonagh
31 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)PIGV was added to Cleftingpanel. Sources: Expert Review Green