| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cerebellar and Pontocerebellar Hypoplasia v0.137 | FKRP | Zornitza Stark Marked gene: FKRP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.137 | FKRP | Zornitza Stark Gene: fkrp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.137 | FKRP | Zornitza Stark Classified gene: FKRP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.137 | FKRP | Zornitza Stark Gene: fkrp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.113 | FKRP |
Elena Savva gene: FKRP was added gene: FKRP was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKRP were set to PMID: 16476814; 21293871; 20236121 Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155; Walker–Warburg syndrome Review for gene: FKRP was set to GREEN Added comment: PMID: 16476814 - Pons/cerebellar hypoplasia reported in 3/13 patients with MRI results (aged 22 months - 11 years), additional 4/13 had cerebellar cysts. One patient had MED, the other WWS (Walker-Warburg syndrome) Describes other papers where patients had vermis hypoplasia. PMID: 21293871 - 2/9 patients with MRI scan had cerebellar atrophy (aged 65, 69 years old), patients had limb-girdle muscular dystrophy 2I PMID: 20236121 - 2 homozygous siblings with Walker–Warburg syndrome. Postnatal MRI of one sibling shows cerbellar vermis and cortex hypoplasia Summary: Uncommon feature but reported in >3 patients, more commonly with Walker-Warburg syndrome patients Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||