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Gene: PIGL

Green List (high evidence)

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

1 review

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, PTV have also been reported. Also note large deletion reported more than once. More than 10 unrelated families reported.
Created: 17 Jan 2025, 12:55 a.m. | Last Modified: 17 Jan 2025, 12:55 a.m.
Panel Version: 1.1229

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CHIME syndrome, MIM# 280000, MONDO:0010221

Publications

Details

History Filter Activity

17 Jan 2025, 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).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PIGL were changed from CHIME syndrome, 280000 (3) to CHIME syndrome, MIM# 280000, MONDO:0010221

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIGL were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIGL was added gene: PIGL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIGL were set to CHIME syndrome, 280000 (3)