Activity
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15 actions
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| Monogenic hearing loss v5.49 | HGF |
Ida Ertmanska Tag Q1_25_ promote_green was removed from gene: HGF. Tag Q1_25_ expert_review was removed from gene: HGF. |
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| Monogenic hearing loss v5.49 | HGF | Ida Ertmanska reviewed gene: HGF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.48 | HGF |
Ida Ertmanska Source Expert Review Green was added to HGF. Source NHS GMS was added to HGF. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Monogenic hearing loss v4.74 | HGF | Achchuthan Shanmugasundram changed review comment from: Three different biallelic variants in HGF gene were identified in more than 60 unrelated families reported in PMIDs:19576567 and 30303587 with profound prelingual deafness. There is also mouse model available in support of the disease association. These evidence suggest that the gene should be promoted to green rating in the next GMS review. However, the previous review from Eleanor Williams note it was decided to rate this gene to amber with the 'watchlist' tag after review with the GMS hearing specialist test group in a Webex on 2019-02-13 and consultation with the Genomics England clinical team. So, I am requesting expert review from the GMS to decide whether this gene can be promoted to green rating now.; to: Three different biallelic variants in HGF gene were identified in more than 60 unrelated families reported in PMIDs:19576567 and 30303587 with profound prelingual deafness. There is also mouse model available in support of the disease association. These evidence suggest that the gene should be promoted to green rating in the next GMS review. However, the previous review from Eleanor Williams note that it was decided to rate this gene to amber with the 'watchlist' tag after review with the GMS hearing specialist test group in a Webex on 2019-02-13 and consultation with the Genomics England clinical team. So, I am requesting expert review from the GMS to decide whether this gene can be promoted to green rating now. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.74 | HGF | Achchuthan Shanmugasundram Phenotypes for gene: HGF were changed from Nonsyndromic Hearing Loss, Mixed; Deafness, autosomal recessive 39, 608265 to Deafness, autosomal recessive 39, OMIM:608265 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.73 | HGF | Achchuthan Shanmugasundram Publications for gene: HGF were set to PMID:11343646; 11564764; 11565020; 12574630; 1386343; 14556002; 14691191; 1531136; 1535333; 15545993; 17467663; 1824873; 1831266; 1837534; 19188684; 19576567; 2142751; 21988987; 21988988; 22763439; 22763448; 2528952; 2531289; 3276728; 7624797; 7854452; 7854453; 8804995; 8898205; 19576567; 27610647 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v4.72 | HGF |
Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: HGF. Tag Q1_25_ expert_review tag was added to gene: HGF. |
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| Monogenic hearing loss v4.72 | HGF | Achchuthan Shanmugasundram reviewed gene: HGF: Rating: GREEN; Mode of pathogenicity: None; Publications: 19576567, 30303587; Phenotypes: Deafness, autosomal recessive 39, OMIM:608265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.113 | HGF | Eleanor Williams Tag watchlist tag was added to gene: HGF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.113 | HGF | Eleanor Williams Classified gene: HGF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.113 | HGF | Eleanor Williams Added comment: Comment on list classification: After review with the GMS hearing specialist test group in a Webex on 2019-02-13 and consultation with the Genomics England clinical team it was decided to rate this gene Amber and add a watchlist tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.113 | HGF | Eleanor Williams Gene: hgf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.109 | HGF | Eleanor Williams commented on gene: HGF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.105 | HGF | Eleanor Williams Publications for gene: HGF were set to PMID:11343646; 11564764; 11565020; 12574630; 1386343; 14556002; 14691191; 1531136; 1535333; 15545993; 17467663; 1824873; 1831266; 1837534; 19188684; 19576567; 2142751; 21988987; 21988988; 22763439; 22763448; 2528952; 2531289; 3276728; 7624797; 7854452; 7854453; 8804995; 8898205 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v1.59 | HGF | Emma Ashton reviewed gene: HGF: Rating: AMBER; Mode of pathogenicity: ; Publications: 19576567, 27610647; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||