Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Optic neuropathy v1.101 | CISD2 | Ivone Leong Classified gene: CISD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Optic neuropathy v1.101 | CISD2 | Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. A phenotype is associated with CISD2 in OMIM and Gene2phenotype. Optic atrophy is a phenotype of Wolfram syndrome and there are >3 unrelated cases of different variants in this gene. Based on this evidence and the expert review it was decided that there is enough evidence to promote this gene to green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Optic neuropathy v1.101 | CISD2 | Ivone Leong Gene: cisd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Optic neuropathy v1.100 | CISD2 | Ivone Leong Publications for gene: CISD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Optic neuropathy v1.39 | CISD2 | Ivone Leong Phenotypes for gene: CISD2 were changed from to WOLFRAM SYNDROME 2, 604928 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Optic neuropathy v1.38 | CISD2 | Ivone Leong Mode of inheritance for gene: CISD2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Optic neuropathy v1.28 | CISD2 | Tom Cullup reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: WOLFRAM SYNDROME 2, 604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Optic neuropathy v1.27 | CISD2 |
Ivone Leong gene: CISD2 was added gene: CISD2 was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber Mode of inheritance for gene: CISD2 was set to |