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| Retinal disorders v4.34 | SGSH |
Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: SGSH. Tag Q2_23_NHS_review was removed from gene: SGSH. |
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| Retinal disorders v4.34 | SGSH | Achchuthan Shanmugasundram commented on gene: SGSH: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.33 | SGSH |
Achchuthan Shanmugasundram Source Expert Review Green was added to SGSH. Source NHS GMS was added to SGSH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v4.4 | SGSH | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major review. These include at least four cases with retinal disorders in literature and additional two cases reported by Siying Lin (Moorfields Eye Hospital).; to: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major review. These include at least four unrelated cases with retinal disorders in literature and additional two cases reported by Siying Lin (Moorfields Eye Hospital). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.4 | SGSH | Achchuthan Shanmugasundram Classified gene: SGSH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.4 | SGSH | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major review. These include at least four cases with retinal disorders in literature and additional two cases reported by Siying Lin (Moorfields Eye Hospital). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.4 | SGSH | Achchuthan Shanmugasundram Gene: sgsh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.3 | SGSH | Achchuthan Shanmugasundram Phenotypes for gene: SGSH were changed from to Retinal dystrophy, HP:0000556; retinitis pigmentosa, MONDO:0019200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.2 | SGSH | Achchuthan Shanmugasundram Publications for gene: SGSH were set to PMID 31718697 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.1 | SGSH | Achchuthan Shanmugasundram edited their review of gene: SGSH: Changed publications to: 31718697, 32195255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.1 | SGSH |
Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: SGSH. Tag Q2_23_NHS_review tag was added to gene: SGSH. |
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| Retinal disorders v4.1 | SGSH |
Achchuthan Shanmugasundram changed review comment from: PMID:31718697 reported that patients from three unrelated families with Mucopolysaccharidosis type III (MPS-III) presented with retinal dystrophy and another unrelated patient was presented with retinitis pigmentosa. They were identified with compound heterozygous variants in SGSH gene. In addition, MPS-IIIA mice exhibited a progressive retinal dystrophy characterized by significant alterations in visual function (PMID:32195255). Although SGSH gene has already been associated with MPS-IIIA in both OMIM and Gene2Phenotype, retinal phenotypes have not yet been included in these records.; to: PMID:31718697 reported that patients from three unrelated families with Mucopolysaccharidosis type III (MPS-III) presented with retinal dystrophy and another unrelated patient was presented with retinitis pigmentosa. They were identified with compound heterozygous variants in SGSH gene. Siying Lin (Moorfields Eye Hospital) also reviewed about two additional cases of retinal dystrophy identified with biallelic SGSH variants in their patient cohort. In addition, MPS-IIIA mice exhibited a progressive retinal dystrophy characterized by significant alterations in visual function (PMID:32195255). Although SGSH gene has already been associated with MPS-IIIA in both OMIM and Gene2Phenotype, retinal phenotypes have not yet been included in these records. |
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| Retinal disorders v4.1 | SGSH | Achchuthan Shanmugasundram reviewed gene: SGSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31718697; Phenotypes: Retinal dystrophy, HP:0000556, retinitis pigmentosa, MONDO:0019200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v3.34 | SGSH |
Siying Lin gene: SGSH was added gene: SGSH was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGSH were set to PMID 31718697 Mode of pathogenicity for gene: SGSH was set to Other Review for gene: SGSH was set to GREEN Added comment: Reports of late onset retinal dystrophy with mild systemic involvement (attenuated MPS phenotype) associated with biallelic genotypes which include likely hypomorphic alleles. Also two individuals identified in our clinical cohort with retinal dystrophy associated with biallelic SGSH variants. Sources: Literature |
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