Ichthyosis
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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

p.Leu167Pro is a common founder variant. Also note large deletion reported more than once.
Created: 19 Dec 2020, 6:36 a.m. | Last Modified: 19 Dec 2020, 6:36 a.m.

Panel Version: 0.100

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CHIME syndrome, MIM# 280000, MONDO:0010221

Publications

Created: 19 Dec 2020, 6:36 a.m.
Last Modified: 19 Dec 2020, 6:36 a.m.
Panel version: 0.100

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Early onset migratory ichthyosiform dermatosis is characteristic of this syndrome (the 'I' in 'CHIME'). Also called Zunich neuroectodermal syndrome.

In 6 previously reported unrelated individuals with Zunich neuroectodermal syndrome, Ng et al. (PMID 22444671) identified compound heterozygosity for 2 mutations in the PIGL gene. None of the variants have homozygotes in gnomAD.

A homozygous variant has also been reported in affected individuals from one family more recently (e.g. PMID 31535386).
Sources: Literature
Created: 17 Aug 2020, 2:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CHIME syndrome (MIM#280000)

Publications

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

Created: 17 Aug 2020, 2:52 a.m.

Panel version: 0.87

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

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