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| Retinal disorders v4.81 | SAMD7 | Arina Puzriakova commented on gene: SAMD7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.74 | SAMD7 |
Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: SAMD7. Tag Q1_24_NHS_review tag was added to gene: SAMD7. |
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| Retinal disorders v4.74 | SAMD7 | Achchuthan Shanmugasundram changed review comment from: Comment on phenotypes: As the evidence for this gene-disease association has been very recent, biallelic variants in SMAD7 has not yet been associated with retinal phenotypes either in OMIM or in Gene2Phenotype.; to: Comment on phenotypes: As the evidence for this gene-disease association has been very recent, biallelic variants in SAMD7 have not yet been associated with retinal phenotypes either in OMIM or in Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.74 | SAMD7 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Siying Lin, there are six unrelated families identified with biallelic SMAD7 variants. Of these patients from four families had macular dystrophy with cone dysfunction, while patients from two families had macular dystrophy without cone dysfunction. Hence, this gene should be promoted to green rating in the next GMS review.; to: Comment on list classification: As reviewed by Siying Lin, there are six unrelated families identified with biallelic SAMD7 variants. Of these, patients from four families had macular dystrophy with cone dysfunction, while patients from two other families had macular dystrophy without cone dysfunction. Hence, this gene should be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.74 | SAMD7 | Achchuthan Shanmugasundram Classified gene: SAMD7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.74 | SAMD7 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Siying Lin, there are six unrelated families identified with biallelic SMAD7 variants. Of these patients from four families had macular dystrophy with cone dysfunction, while patients from two families had macular dystrophy without cone dysfunction. Hence, this gene should be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.74 | SAMD7 | Achchuthan Shanmugasundram Gene: samd7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.73 | SAMD7 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: As the evidence for this gene-disease association has been very recent, biallelic variants in SMAD7 has not yet been associated with retinal phenotypes either in OMIM or in Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.73 | SAMD7 | Achchuthan Shanmugasundram Phenotypes for gene: SAMD7 were changed from Macular dystrophy; cone dystrophy to macular dystrophy, retinal, MONDO:0031166; Congenital stationary cone dysfunction, HP:0030637 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.72 | SAMD7 | Achchuthan Shanmugasundram Publications for gene: SAMD7 were set to PMID: 38272031 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.71 | SAMD7 | Achchuthan Shanmugasundram reviewed gene: SAMD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 38272031; Phenotypes: macular dystrophy, retinal, MONDO:0031166, Congenital stationary cone dysfunction, HP:0030637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.71 | SAMD7 |
Siying Lin gene: SAMD7 was added gene: SAMD7 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: SAMD7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAMD7 were set to PMID: 38272031 Phenotypes for gene: SAMD7 were set to Macular dystrophy; cone dystrophy Penetrance for gene: SAMD7 were set to unknown Mode of pathogenicity for gene: SAMD7 was set to Other Review for gene: SAMD7 was set to GREEN Added comment: 5 different variants identified in homozygosity in 6 families from varying ethnicities (Pakistani, African, Yemenite Jewish, Berber/Morocccan) segregating with disease. All affected individuals presented with macular dystrophy, a few had additional cone system involvement. Immunofluorescence studies show SAMD7 localisation to inner and outer nuclear layers of the human retina. Sources: Literature |
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