Clefting
Gene: PIGN
PIGN (phosphatidylinositol glycan anchor biosynthesis class N)
EnsemblGeneIds (GRCh38): ENSG00000197563
EnsemblGeneIds (GRCh37): ENSG00000197563
OMIM: 606097, Gene2Phenotype
PIGN is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000197563
EnsemblGeneIds (GRCh37): ENSG00000197563
OMIM: 606097, Gene2Phenotype
PIGN is in 9 panels
1 review
Olivia Niblock (Genomics England Curator)
Mutations in PIGN are linked to Multiple congenital anomalies-hypotonia-seizures syndrome 1, a listed phenotype of which is cleft palate. One literature paper found directly linking mutations in PIGA and PIGN to one case of cleft palate in foetus. One other paper citing 4 cases of PIGN mutations and orofacial clefts.Created: 31 May 2017, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
- MCAHS1
- OMIM
- 606097
- Clinvar variants
- Variants in PIGN
- 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: 4
Added New Source
Ellen McDonagh (Genomics England Curator)PIGN was added to Cleftingpanel. Sources: Expert Review Green
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PIGN was created by ellenmcdonagh