| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Genomic newborn screening: BabyScreen+ v0.2145 | CEP250 | Zornitza Stark Marked gene: CEP250 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2145 | CEP250 | Zornitza Stark Gene: cep250 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2145 | CEP250 | Zornitza Stark Classified gene: CEP250 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2145 | CEP250 | Zornitza Stark Gene: cep250 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2141 | CEP250 |
Lilian Downie gene: CEP250 was added gene: CEP250 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: CEP250 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP250 were set to PMID: 34223797, PMID: 29718797, PMID: 30459346, PMID: 28005958 Phenotypes for gene: CEP250 were set to Cone-rod dystrophy and hearing loss 2 MIM#618358 Review for gene: CEP250 was set to RED Added comment: Hearing loss and RP Atypical Usher phenotype Age of onset and penetrance of hearing loss component is variable and seeing as this is the treatable component have excluded from list Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||