Activity
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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 v8.98 | 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 v2.13 | DMD | Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | DMD | Ivone Leong reviewed gene: DMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.3 | DMD |
Ivone Leong gene: DMD was added gene: DMD was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: DMD was set to |
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