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| Retinal disorders v8.86 | MORC2 | Ida Ertmanska changed review comment from: Comment on list classification: As reviewed by Siying Lin, there are more than 3 individuals reported in literature with heterozygous MORC2 variants, presenting with retinal disease. The retinal phenotype ranged from mild pigmentary changes reported in childhood to severe retinitis pigmentosa in adulthood. Based on available evidence, this gene should be updated to Green for Retinal disease.; to: Comment on list classification: As reviewed by Siying Lin, there are more than 3 individuals reported in literature with heterozygous MORC2 variants, presenting with syndromic retinal disease. The retinal phenotype ranged from mild pigmentary changes reported in childhood to severe retinitis pigmentosa in adulthood. Based on available evidence, this gene should be updated to Green for Retinal disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.86 | MORC2 | Ida Ertmanska commented on gene: MORC2: Comment on list classification: As reviewed by Siying Lin, there are more than 3 individuals reported in literature with heterozygous MORC2 variants, presenting with retinal disease. The retinal phenotype ranged from mild pigmentary changes reported in childhood to severe retinitis pigmentosa in adulthood. Based on available evidence, this gene should be updated to Green for Retinal disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.86 | MORC2 | Ida Ertmanska Phenotypes for gene: MORC2 were changed from Retinal dystrophy to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, OMIM:619090; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688; Retinal dystrophy, HP:0000556 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.85 | MORC2 | Ida Ertmanska Publications for gene: MORC2 were set to PMID: 36791574, 32693025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.84 | MORC2 | Ida Ertmanska Classified gene: MORC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.84 | MORC2 | Ida Ertmanska Gene: morc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.83 | MORC2 | Ida Ertmanska Mode of inheritance for gene: MORC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.82 | MORC2 |
Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: MORC2. Tag Q1_26_NHS_review tag was added to gene: MORC2. |
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| Retinal disorders v8.82 | MORC2 | Ida Ertmanska reviewed gene: MORC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26659848, 32693025, 36791574, 39143067, 40302207; Phenotypes: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, OMIM:619090, Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.78 | MORC2 |
Siying Lin gene: MORC2 was added gene: MORC2 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MORC2 were set to PMID: 36791574, 32693025 Phenotypes for gene: MORC2 were set to Retinal dystrophy Penetrance for gene: MORC2 were set to unknown Mode of pathogenicity for gene: MORC2 was set to Other Review for gene: MORC2 was set to GREEN Added comment: PMID 32693025 - 5 out of 6 affected individuals who had dilated eye exams had retinal pigmentary abnormalities PMID 36791574 - retinopathy seen in at least 3 out of 7 affected individuals Sources: Literature |
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