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  3. PIGL
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Structural eye disease

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 11 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Ng described Five families
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CHIME syndrome, 280000; Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Promoted from amber to green as there is sufficient evidence.
Created: 24 Apr 2019, 2:36 p.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Ng described Five families
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CHIME syndrome, 280000; Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.71

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • CHIME syndrome, 280000
  • Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome
OMIM
605947
Clinvar variants
Variants in PIGL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 3

Added New Source, Added New Source, Set Phenotypes, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PIGL. Source Expert Review Green was added to PIGL. Added phenotypes CHIME syndrome, 280000; Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome for gene: PIGL Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

3 Jan 2019, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: PIGL was added gene: PIGL was added to Structural eye disease. Sources: Expert Review Amber Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGL were set to 22444671 Phenotypes for gene: PIGL were set to CHIME syndrome, 280000; Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome