Activity
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12 actions
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| Retinal disorders v6.7 | SUMF1 |
Sarah Leigh Tag Q2_24_promote_green was removed from gene: SUMF1. Tag Q2_24_NHS_review was removed from gene: SUMF1. |
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| Retinal disorders v6.7 | SUMF1 | Eleanor Williams reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.6 | SUMF1 |
Sarah Leigh Source NHS GMS was added to SUMF1. Source Expert Review Green was added to SUMF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v5.9 | SUMF1 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Siying Lin and published in PMID:38863195, there are three unrelated cases with biallelic SUMF1 variants and non-syndromic retinal dystrophy. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Siying Lin and published in PMID:38863195, there are three unrelated cases with biallelic SUMF1 variants and retinal dystrophy. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.9 | SUMF1 | Achchuthan Shanmugasundram Classified gene: SUMF1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.9 | SUMF1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Siying Lin and published in PMID:38863195, there are three unrelated cases with biallelic SUMF1 variants and non-syndromic retinal dystrophy. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.9 | SUMF1 | Achchuthan Shanmugasundram Gene: sumf1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.8 | SUMF1 | Achchuthan Shanmugasundram Phenotypes for gene: SUMF1 were changed from Retinal dystrophy to Multiple sulfatase deficiency, OMIM:272200; inherited retinal dystrophy, MONDO:0019118 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.7 | SUMF1 | Achchuthan Shanmugasundram Publications for gene: SUMF1 were set to PMID 38863195 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.6 | SUMF1 |
Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: SUMF1. Tag Q2_24_NHS_review tag was added to gene: SUMF1. |
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| Retinal disorders v5.6 | SUMF1 | Achchuthan Shanmugasundram reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38863195; Phenotypes: Multiple sulfatase deficiency, OMIM:272200, inherited retinal dystrophy, MONDO:0019118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.6 | SUMF1 |
Siying Lin gene: SUMF1 was added gene: SUMF1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUMF1 were set to PMID 38863195 Phenotypes for gene: SUMF1 were set to Retinal dystrophy Mode of pathogenicity for gene: SUMF1 was set to Other Review for gene: SUMF1 was set to GREEN Added comment: 3 cases published in literature with biallelic variants in SUMF1 and retinal dystrophy, one paediatric patient had an attenuated phenotype, the other two adult patients had non-syndromic retinal dystrophy. Retinal dystrophy is part of the multiple sulfatase deficiency phenotype typically associated with biallelic variants in SUMF1, and these cases show that presumed hypomorphic variants in SUMF1 may also be associated with non-syndromic retinal dystrophy Sources: Literature |
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