Anophthalmia_Microphthalmia_Coloboma

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. Also note large deletion reported more than once. More than 10 unrelated families reported.
Sources: Expert Review
Created: 19 Dec 2020, 6:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CHIME syndrome, MIM# 280000, MONDO:0010221

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • CHIME syndrome, MIM# 280000, MONDO:0010221
Tags
SV/CNV founder
OMIM
605947
Clinvar variants
Variants in PIGL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2020, 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).

19 Dec 2020, 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).

19 Dec 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PIGL was added gene: PIGL was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review SV/CNV, founder tags were added to gene: PIGL. Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGL were set to 22444671; 31535386; 30023290; 29473937; 28371479; 25706356 Phenotypes for gene: PIGL were set to CHIME syndrome, MIM# 280000, MONDO:0010221 Review for gene: PIGL was set to GREEN