| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hereditary Neuropathy - complex v0.110 | SBF1 | Zornitza Stark Marked gene: SBF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.110 | SBF1 | Zornitza Stark Gene: sbf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.110 | SBF1 | Zornitza Stark Classified gene: SBF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.110 | SBF1 | Zornitza Stark Gene: sbf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.109 | SBF1 |
Zornitza Stark gene: SBF1 was added gene: SBF1 was added to Hereditary Neuropathy - complex. Sources: Expert Review Mode of inheritance for gene: SBF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SBF1 were set to 23749797; 23749797; 32444983; 30039846; 28005197 Phenotypes for gene: SBF1 were set to Charcot-Marie-Tooth disease, type 4B3 , MIM#615284; MONDO:0014117 Review for gene: SBF1 was set to GREEN Added comment: At least 5 unrelated families reported. Some with isolated neuropathy and others with additional neurological and syndromic features, including DD/ID and congenital anomalies. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||