Ichthyosis

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

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

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

Details

History Filter Activity

19 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIGL were set to 22444671; 31535386

19 Dec 2020, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: PIGL. Tag founder tag was added to gene: PIGL.

17 Aug 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).

17 Aug 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).

17 Aug 2020, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: PIGL was added gene: PIGL was added to Ichthyosis. Sources: Literature Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGL were set to 22444671; 31535386 Phenotypes for gene: PIGL were set to CHIME syndrome (MIM#280000) Review for gene: PIGL was set to GREEN gene: PIGL was marked as current diagnostic