| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Deafness_IsolatedAndComplex v1.40 | CHSY1 | Zornitza Stark Marked gene: CHSY1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.40 | CHSY1 | Zornitza Stark Gene: chsy1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.40 | CHSY1 | Zornitza Stark Classified gene: CHSY1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.40 | CHSY1 | Zornitza Stark Gene: chsy1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.39 | CHSY1 |
Zornitza Stark gene: CHSY1 was added gene: CHSY1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHSY1 were set to 21129728; 21129727; 24269551 Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Review for gene: CHSY1 was set to GREEN Added comment: Skeletal anomalies, dysmorphic features and deafness. More than 5 unrelated families reported. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||