Fetal anomalies
Gene: PIGL

PIGL (phosphatidylinositol glycan anchor biosynthesis class L)
EnsemblGeneIds (GRCh38): ENSG00000108474
EnsemblGeneIds (GRCh37): ENSG00000108474
OMIM: 605947, Gene2Phenotype
PIGL is in 10 panels

2 reviews

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Bi-allelic variants in PIGL have been associated with a multisystem disorder clinically characterised by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME).

Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties. Some individuals have hyperphosphatasia.

p.(Leu167Pro) is a common founder variant, PTV have also been reported. Also note large deletion reported more than once. More than 10 unrelated families reported.
Created: 16 Jan 2025, 9:42 p.m. | Last Modified: 16 Jan 2025, 9:42 p.m.

Panel Version: 1.305

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CHIME syndrome MIM#280000

Publications

Created: 16 Jan 2025, 9:42 p.m.
Last Modified: 16 Jan 2025, 9:42 p.m.
Panel version: 1.305

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants in PIGL have been associated with a multisystem disorder clinically characterised by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties. Some individuals have hyperphosphatasia. p.Leu167Pro is a common founder variant. Also note large deletion reported more than once. More than 10 unrelated families reported.
Created: 19 Dec 2020, 6:43 a.m. | Last Modified: 19 Dec 2020, 6:43 a.m.

Panel Version: 0.3293

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CHIME syndrome, MIM# 280000, MONDO:0010221

Publications

Created: 19 Dec 2020, 6:43 a.m.
Last Modified: 19 Dec 2020, 6:43 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3293

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

CHIME syndrome, MIM# 280000, MONDO:0010221

Tags

SV/CNV

OMIM

605947

Clinvar variants

Variants in PIGL

Penetrance

None

Publications

Panels with this gene