Activity
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12 actions
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| Retinal disorders v7.5 | SPG11 |
Siying Lin gene: SPG11 was added gene: SPG11 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to PMID: 19194956, 36343909, 38613257,21035867 Phenotypes for gene: SPG11 were set to Retinal dystrophy; spastic paraplegia Mode of pathogenicity for gene: SPG11 was set to Other Review for gene: SPG11 was set to GREEN Added comment: Kjellin syndrome is a form of complex hereditary spastic paraplegia, associated with 2 genes, SPG11 and SPG15/ZFYVE26. Patients have a consistent retinal phenotype with flecked maculopathy and associated autofluorescence changes. ZFYVE26 is already listed as a green gene on the retinal panel. Sources: Literature |
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| Retinal disorders v2.245 | ZFYVE26 | Ivone Leong Tag Q2_21_rating was removed from gene: ZFYVE26. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.245 | ZFYVE26 | Ivone Leong commented on gene: ZFYVE26: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.244 | ZFYVE26 |
Ivone Leong Source Expert Review Green was added to ZFYVE26. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v2.172 | ZFYVE26 | Ivone Leong Classified gene: ZFYVE26 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.172 | ZFYVE26 | Ivone Leong Added comment: Comment on list classification: 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 rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.172 | ZFYVE26 | Ivone Leong Gene: zfyve26 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.171 | ZFYVE26 | Ivone Leong Tag Q2_21_rating tag was added to gene: ZFYVE26. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.171 | ZFYVE26 | Ivone Leong Publications for gene: ZFYVE26 were set to 18394578; 14409555; 19805727 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.170 | ZFYVE26 | Ivone Leong Publications for gene: ZFYVE26 were set to 18394578; 14409555 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.169 | ZFYVE26 | Ivone Leong Phenotypes for gene: ZFYVE26 were changed from Spastic paraplegia 15, autosomal recessive MIM#270700 to Spastic paraplegia 15, autosomal recessive OMIM:270700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.20 | ZFYVE26 |
Zornitza Stark gene: ZFYVE26 was added gene: ZFYVE26 was added to Retinal disorders. Sources: Expert list Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFYVE26 were set to 18394578; 14409555 Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive MIM#270700 Review for gene: ZFYVE26 was set to GREEN gene: ZFYVE26 was marked as current diagnostic Added comment: Retinal degeneration can be a feature of this condition. Sources: Expert list |
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