Activity
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18 actions
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| Retinal disorders v8.99 | THRB |
Achchuthan Shanmugasundram changed review comment from: There are additional published evidence available in support of the association of monoallelic variants in THRB gene with macular dystrophy. Hence, this gene solidly fits with green rating. PMID:40295579 (2025) reported the identification of 12 autosomal dominant macular dystrophy (ADMD) patients from three unrelated families with THRB variants (c.283 + 1G > A in two families and c.283G > A in one family). Splicing assays showed complete exon 5 skipping or a 6 bp deletion in both variants. PMID:41153457 (2025) reported the identification of a heterozygous THRB variant (c.283+1G>A) in a female patient and her son with macular dystrophy.; to: There is additional published evidence available in support of the association of monoallelic variants in THRB gene with macular dystrophy. Hence, this gene solidly fits with green rating. PMID:40295579 (2025) reported the identification of 12 autosomal dominant macular dystrophy (ADMD) patients from three unrelated families with THRB variants (c.283 + 1G > A in two families and c.283G > A in one family). Splicing assays showed complete exon 5 skipping or a 6 bp deletion in both variants. PMID:41153457 (2025) reported the identification of a heterozygous THRB variant (c.283+1G>A) in a female patient and her son with macular dystrophy. |
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| Retinal disorders v8.99 | THRB | Achchuthan Shanmugasundram Tag watchlist was removed from gene: THRB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.99 | THRB | Achchuthan Shanmugasundram Publications for gene: THRB were set to 37547476 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.98 | THRB |
Achchuthan Shanmugasundram edited their review of gene: THRB: Added comment: There are additional published evidence available in support of the association of monoallelic variants in THRB gene with macular dystrophy. Hence, this gene solidly fits with green rating. PMID:40295579 (2025) reported the identification of 12 autosomal dominant macular dystrophy (ADMD) patients from three unrelated families with THRB variants (c.283 + 1G > A in two families and c.283G > A in one family). Splicing assays showed complete exon 5 skipping or a 6 bp deletion in both variants. PMID:41153457 (2025) reported the identification of a heterozygous THRB variant (c.283+1G>A) in a female patient and her son with macular dystrophy.; Changed publications to: 37547476, 40295579, 41153457 |
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| Retinal disorders v8.98 | THRB |
Eleanor Williams Tag Q2_25_ promote_green was removed from gene: THRB. Tag Q2_25_ NHS_review was removed from gene: THRB. |
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| Retinal disorders v8.97 | THRB | Eleanor Williams reviewed gene: THRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.96 | THRB |
Eleanor Williams Source NHS GMS was added to THRB. Source Expert Review Green was added to THRB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v7.26 | THRB |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: THRB. Tag Q2_25_ NHS_review tag was added to gene: THRB. |
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| Retinal disorders v7.26 | THRB | Achchuthan Shanmugasundram Classified gene: THRB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.26 | THRB | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Romana Izakovicova, a new variant (c.283G>C p.(Gly95Arg)) was reported in five probands from her clinical practice and 100k diagnostic discovery patients. Hence, there is sufficient evidence available now for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.26 | THRB | Achchuthan Shanmugasundram Gene: thrb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.25 | THRB | Achchuthan Shanmugasundram edited their review of gene: THRB: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.21 | THRB | Romana Izakovicova reviewed gene: THRB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 37547476; Phenotypes: inherited retinal dystrophy, MONDO:0019118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.11 | THRB | Achchuthan Shanmugasundram Classified gene: THRB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.11 | THRB |
Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are three unrelated cases, all of them were identified with the same variant and this variant has not yet been functionally characterised. Hence, this gene should be rated amber with current evidence. The 'watchlist' tag has also been added. |
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| Retinal disorders v5.11 | THRB | Achchuthan Shanmugasundram Gene: thrb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.10 | THRB | Achchuthan Shanmugasundram Tag watchlist tag was added to gene: THRB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v5.10 | THRB |
Achchuthan Shanmugasundram gene: THRB was added gene: THRB was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: THRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: THRB were set to 37547476 Phenotypes for gene: THRB were set to inherited retinal dystrophy, MONDO:0019118 Review for gene: THRB was set to AMBER Added comment: PMID:37547476 reported a family of Spanish decent with autosomal dominant inherited retinal dystrophy (IRD) and monoallelic THRB variant (c.283 + 1G>A). An expanded genetic analysis of the THRB gene in an unsolved IRD cohort also resulted in the identification of the same variant in two additional unrelated families. There are also several studies that have shown a role for THRB gene in cone development in a wide range of model organisms. Sources: Literature |
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