 |
PIGA |
- 2
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- PIGA (HGNC:8957) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- phosphatidylinositol glycan anchor biosynthesis class A
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- GPI3, PIG-A
- %HI
- 26.91(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.96(Read more about gnomAD pLI score)
- LOEUF
- 0.3(Read more about gnomAD LOEUF score)
- Cytoband
- Xp22.2
- Genomic Coordinates
-
GRCh37/hg19: chrX:15337573-15353676 NCBI Ensembl UCSC GRCh38/hg38: chrX:15319451-15335554 NCBI Ensembl UCSC - MANE Select Transcript
- NM_002641.4 ENST00000333590.6 (Read more about MANE Select)
- Function
- Catalytic subunit of the glycosylphosphatidylinositol-N- acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis. {ECO:0000305|PubMed:16162815}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- Developmental and epileptic encephalopathy Monarch
-
PUBMED:
25473036
Soden et al., 2014 identified an insertion variant in an affected male proband with congenital anomalies, hypotonia, and seizures. His unaffected mother was heterozygous for the variant and had random X chromosome inactivation.
-
PUBMED:
24357517
Belet, et al., 2014, report a frameshift mutation in exon 2 in a 24-year old male who, at age 6 months, had onset of myoclonic seizures with arrest of development and axial hypotonia (described in Claes et al, 1997, PMID:9307258). Affect maternal uncles died in infancy of respiratory infections or status epilepticus. Female carriers were all normal. The authors showed that the mutation results in the likely use of an alternate start codon leading to a hypomorphic N-truncated protein.
-
PUBMED:
32452540
Bayat et al., 2020 reviewed 76 affected males from 47 unrelated families with hemizygous variants in PIGA, including 34 missense, 4 splice site, 4 truncating. De novo in 6 novel and 1 previously reported patient. 47 unrelated families. All carrier females unaffected. 29 of the 33 missense variants were in highly conserved amnio acids and many are predicted to be deleterious. One individual with a splicing variant (c.-63+1G>C), presented with Fryns syndrome like phenotype, which has previously only been reported as a result of recessive variants in PIGN.
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
