| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Optic neuropathy v4.10 | HIKESHI |
Achchuthan Shanmugasundram Tag watchlist was removed from gene: HIKESHI. Tag Q3_23_promote_green tag was added to gene: HIKESHI. Tag Q3_23_NHS_review tag was added to gene: HIKESHI. |
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| Optic neuropathy v4.10 | HIKESHI | Achchuthan Shanmugasundram Classified gene: HIKESHI as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.10 | HIKESHI | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (3 unrelated cases) available now for promoting this gene to green rating at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.10 | HIKESHI | Achchuthan Shanmugasundram Gene: hikeshi has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.9 | HIKESHI | Achchuthan Shanmugasundram Publications for gene: HIKESHI were set to 26545878; 28000699 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v4.5 | HIKESHI | Hannah Knight reviewed gene: HIKESHI: Rating: GREEN; Mode of pathogenicity: None; Publications: 34111619; Phenotypes: Leukodystrophy, hypomyelinating; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.41 | HIKESHI | Ivone Leong changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association (only 2 cases with optic atrophy), therefore this gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.41 | HIKESHI | Ivone Leong Tag watchlist tag was added to gene: HIKESHI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.41 | HIKESHI | Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.119 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.41 | HIKESHI |
Ivone Leong gene: HIKESHI was added gene: HIKESHI was added to Optic neuropathy. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: HIKESHI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIKESHI were set to 26545878; 28000699 Phenotypes for gene: HIKESHI were set to Leukodystrophy, hypomyelinating, 13, OMIM:616881 |
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