Ichthyosis
Gene: PIGL
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
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: LiteratureCreated: 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
Phenotypes for gene: PIGL were changed from CHIME syndrome (MIM#280000) to CHIME syndrome, MIM# 280000, MONDO:0010221
Publications for gene: PIGL were set to 22444671; 31535386
Tag SV/CNV tag was added to gene: PIGL. Tag founder tag was added to gene: PIGL.
Gene: pigl has been classified as Green List (High Evidence).
Gene: pigl has been classified as Green List (High Evidence).
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