Clefting
Gene: PIGA
PIGA (phosphatidylinositol glycan anchor biosynthesis class A)
EnsemblGeneIds (GRCh38): ENSG00000165195
EnsemblGeneIds (GRCh37): ENSG00000165195
OMIM: 311770, Gene2Phenotype
PIGA is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000165195
EnsemblGeneIds (GRCh37): ENSG00000165195
OMIM: 311770, Gene2Phenotype
PIGA is in 12 panels
1 review
Olivia Niblock (Genomics England Curator)
Mutations in PIGA are linked with Multiple congenital anomalies-hypotonia-seizures syndrome 2, a clinical phenotype of which is a high arched palate. However, literature suggests that germline mutations in PIGA (XLR) are lethal, as opposed to somatic mutations. Another functional study highlights PIGA as a good biological candidate in palatial formation, but does not describe patients.Created: 31 May 2017, 3:30 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Phenotypes
-
- MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
- MCAHS2
- Tags
- OMIM
- 311770
- Clinvar variants
- Variants in PIGA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenias and congenital anaemias
- DDG2P
- Thrombophilia with a likely monogenic cause
- Inherited bleeding disorders
- Early onset or syndromic epilepsy
- Fetal anomalies
- Clefting
History Filter Activity
2 Jun 2020, Gel status: 1
Added Tag
Sarah Leigh (Genomics England Curator)Tag Skewed X-inactivation tag was added to gene: PIGA.
31 May 2017, Gel status: 1
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: 0
Created
Ellen McDonagh (Genomics England Curator)PIGA was created by ellenmcdonagh
31 May 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PIGA was added to Cleftingpanel. Sources: Expert Review Red