Congenital Heart Defect
Gene: PIGL
PIGL (phosphatidylinositol glycan anchor biosynthesis class L)
EnsemblGeneIds (GRCh38): ENSG00000108474
EnsemblGeneIds (GRCh37): ENSG00000108474
OMIM: 605947, Gene2Phenotype
PIGL is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000108474
EnsemblGeneIds (GRCh37): ENSG00000108474
OMIM: 605947, Gene2Phenotype
PIGL is in 10 panels
1 review
Harshini Thiyagarajah (University of Melbourne)
Compound heterozygous mutations in PIGL cause CHIME syndrome, a key feature of which is congenital heart disease.
Ng et al. (2012) established this connection through WES of 5 unrelated probands with similar phenotypes. The authors conducted further functional work from patient-derived cell lines to show the loss of glycosylphosphatidylinositol anchor markers, confirming pathogenicity.Created: 19 Nov 2023, 4:58 a.m. | Last Modified: 19 Nov 2023, 4:58 a.m.
Panel Version: 0.315
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
colobomas; heart defects; ichthyosiform dermatosis; intellectual disability; ear anomalies
Publications
- PMID: 22444671
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- CHIME syndrome, MIIM# 280000
- OMIM
- 605947
- Clinvar variants
- Variants in PIGL
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
22 Nov 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pigl has been classified as Green List (High Evidence).
22 Nov 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pigl has been classified as Green List (High Evidence).
22 Nov 2023, Gel status: 0
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PIGL were set to
22 Nov 2023, Gel status: 0
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PIGL were changed from to CHIME syndrome, MIIM# 280000
19 Nov 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance
Harshini Thiyagarajah (University of Melbourne)gene: PIGL was added gene: PIGL was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal