| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cerebellar and Pontocerebellar Hypoplasia v0.126 | POMGNT2 | Zornitza Stark Marked gene: POMGNT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.126 | POMGNT2 | Zornitza Stark Gene: pomgnt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.126 | POMGNT2 | Zornitza Stark Classified gene: POMGNT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.126 | POMGNT2 | Zornitza Stark Gene: pomgnt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.113 | POMGNT2 |
Crystle Lee gene: POMGNT2 was added gene: POMGNT2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMGNT2 were set to 22958903; 27066570 Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 (MIM#614830) Review for gene: POMGNT2 was set to GREEN Added comment: POMGNT2 (also known as GTDC2). Associated phenotype also referred to as Walker-Warburg syndrome. PMID: 22958903; Manzini 2012: 3 different hom variants in 3 consang. families, all reported with cerebellar hypoplasia. (2 nonsense and 1 missense). "knockdown in zebrafish showed all WWS features (hydrocephalus, ocular defects, and muscular dystrophy)" PMID: 27066570; Endo 2015: reported 3 hom/chet missense with no cerebellar hypoplasia. Missense variants showed to reduced activity, which likely explains the milder phenotype. Green in PanelApp UK list. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||