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| Retinal disorders v2.245 | AMACR |
Ivone Leong Tag Q2_21_rating was removed from gene: AMACR. Tag Q2_21_NHS_review was removed from gene: AMACR. |
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| Retinal disorders v2.245 | AMACR | Ivone Leong Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.245 | AMACR | Ivone Leong changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.245 | AMACR | Ivone Leong commented on gene: AMACR: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.245 | AMACR | Ivone Leong commented on gene: AMACR: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.244 | AMACR |
Ivone Leong Source Expert Review Green was added to AMACR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v2.177 | AMACR | Ivone Leong Classified gene: AMACR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.177 | AMACR | Ivone Leong Added comment: Comment on list classification: New gene added by Hannah Knight (Moorfields Eye Hospital). 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 v2.177 | AMACR | Ivone Leong Gene: amacr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.176 | AMACR |
Ivone Leong Tag Q2_21_rating tag was added to gene: AMACR. Tag Q2_21_NHS_review tag was added to gene: AMACR. |
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| Retinal disorders v2.176 | AMACR | Ivone Leong Phenotypes for gene: AMACR were changed from Retinitis pigmentosa to Retinitis pigmentosa, MONDO:0019200; Alpha-methylacyl-CoA racemase deficiency, OMIM:614307 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.175 | AMACR | Ivone Leong Publications for gene: AMACR were set to PMID: 21686617; 20821052; 11861706; 10655068; 15249642; 23286897 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.172 | AMACR |
Hannah Knight gene: AMACR was added gene: AMACR was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMACR were set to PMID: 21686617; 20821052; 11861706; 10655068; 15249642; 23286897 Phenotypes for gene: AMACR were set to Retinitis pigmentosa Penetrance for gene: AMACR were set to Complete Mode of pathogenicity for gene: AMACR was set to Other Review for gene: AMACR was set to GREEN Added comment: Only three reported mutations to our knowledge: c.154T>C; p.Ser52Pro (most common) c.367G>A; p.Asp123Asn c.559G>A; p.Gly187Arg For some patients, the retinal disorder can be the first manifestation of the condition, prior to developing neurological symptoms. We believe this gene should be on the retinal disorders panel to enable a quicker diagnosis and pre-emptive referrals to neurology. Sources: Literature |
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