| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Anophthalmia_Microphthalmia_Coloboma v0.77 | PIGL | Zornitza Stark Marked gene: PIGL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v0.77 | PIGL | Zornitza Stark Gene: pigl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v0.77 | PIGL | Zornitza Stark Classified gene: PIGL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v0.77 | PIGL | Zornitza Stark Gene: pigl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v0.76 | PIGL |
Zornitza Stark gene: PIGL was added gene: PIGL was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review SV/CNV, founder tags were added to gene: PIGL. Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGL were set to 22444671; 31535386; 30023290; 29473937; 28371479; 25706356 Phenotypes for gene: PIGL were set to CHIME syndrome, MIM# 280000, MONDO:0010221 Review for gene: PIGL was set to GREEN Added comment: Bi-allelic variants in PIGL have been associated with a multisystem disorder clinically characterised by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties. Some individuals have hyperphosphatasia. p.Leu167Pro is a common founder variant. Also note large deletion reported more than once. More than 10 unrelated families reported. Sources: Expert Review |
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