| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Deafness_IsolatedAndComplex v0.582 | PEX1 | Zornitza Stark Marked gene: PEX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.582 | PEX1 | Zornitza Stark Gene: pex1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.582 | PEX1 | Zornitza Stark Classified gene: PEX1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.582 | PEX1 | Zornitza Stark Gene: pex1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.581 | PEX1 |
Zornitza Stark gene: PEX1 was added gene: PEX1 was added to Deafness_IsolatedAndComplex. Sources: Expert list Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX1 were set to 32596134; 31831025; 27872819; 27633571; 27302843 Phenotypes for gene: PEX1 were set to Heimler syndrome 1, MIM# 234580 Review for gene: PEX1 was set to GREEN Added comment: Heimler syndrome-1 (HMLR1), which represents the mildest end of the peroxisomal biogenesis disorder spectrum, is a rare autosomal recessive disorder characterised by sensorineural hearing loss, enamel hyoplasia of the secondary dentition, nail abnormalities, and retinitis pigmentosa. More than 5 unrelated families reported. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||