| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Monogenic hearing loss v2.224 | CEP250 | Eleanor Williams Tag for-review was removed from gene: CEP250. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.221 | CEP250 | Eleanor Williams commented on gene: CEP250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.220 | CEP250 |
Eleanor Williams Source Expert Review Green was added to CEP250. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Monogenic hearing loss v2.144 | CEP250 | Ivone Leong Classified gene: CEP250 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.144 | CEP250 | Ivone Leong Gene: cep250 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.143 | CEP250 |
Ivone Leong gene: CEP250 was added gene: CEP250 was added to Hearing loss. Sources: Literature for-review tags were added to gene: CEP250. Mode of inheritance for gene: CEP250 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP250 were set to 24780881; 29718797; 30459346 Phenotypes for gene: CEP250 were set to Cone-rod dystrophy and hearing loss 2, OMIM:618358, MONDO:0020780 Review for gene: CEP250 was set to GREEN Added comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be made considered for Green status at the next review. This gene is also on the Retinal disorders panel (v2.58) with the following review from Zornitza Stark: "Cone-rod dystrophy and hearing loss-2 (CRDHL2) is characterized by retinal dystrophy, with photophobia and progressive reduction in visual acuity, associated with sensorineural hearing loss. Three unrelated families reported. Zornitza Stark (Australian Genomics), 10 Oct 2020" Sources: Literature |
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