Anophthalmia_Microphthalmia_Coloboma
Gene: PIGLEnsemblGeneIds (GRCh38): ENSG00000108474
EnsemblGeneIds (GRCh37): ENSG00000108474
OMIM: 605947, Gene2Phenotype
PIGL is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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 ReviewCreated: 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
- OMIM
- 605947
- Clinvar variants
- Variants in PIGL
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pigl has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pigl has been classified as Green List (High Evidence).
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