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| Ichthyosis v0.102 | PIGL | Zornitza Stark Phenotypes for gene: PIGL were changed from CHIME syndrome (MIM#280000) to CHIME syndrome, MIM# 280000, MONDO:0010221 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.101 | PIGL | Zornitza Stark Publications for gene: PIGL were set to 22444671; 31535386 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.100 | PIGL |
Zornitza Stark Tag SV/CNV tag was added to gene: PIGL. Tag founder tag was added to gene: PIGL. |
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| Ichthyosis v0.100 | PIGL | Zornitza Stark reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome, MIM# 280000, MONDO:0010221; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.91 | PIGL | Zornitza Stark Marked gene: PIGL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.91 | PIGL | Zornitza Stark Gene: pigl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.91 | PIGL | Zornitza Stark Classified gene: PIGL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.91 | PIGL | Zornitza Stark Gene: pigl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.87 | PIGL |
Paul De Fazio 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 Added comment: 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 |
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