Activity
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8 actions
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| Retinal disorders v7.5 | GPATCH11 | Achchuthan Shanmugasundram Classified gene: GPATCH11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.5 | GPATCH11 | Achchuthan Shanmugasundram Gene: gpatch11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.4 | GPATCH11 | Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:39572588 paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.4 | GPATCH11 | Achchuthan Shanmugasundram Publications for gene: GPATCH11 were set to 39572588 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.3 | GPATCH11 | Achchuthan Shanmugasundram Phenotypes for gene: GPATCH11 were changed from neuronevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; retinal disorder, MONDO:0005283 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.2 | GPATCH11 |
Achchuthan Shanmugasundram changed review comment from: PMID:39572588 reported 12 individuals from six unrelated families presenting with a syndromic disease and they were identified with biallelic variants in GPATCH11 gene. Intellectual disability was present in three unrelated families, while global developmental delay was reported in all. This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature; to: PMID:39572588 reported 12 individuals from six unrelated families presenting with a syndromic disease and they were identified with biallelic variants in GPATCH11 gene. Retinal dystrophy and mild foveolar hypoplasia were reported in one family, whereas macular atrophy was reported in a different family. Signs of retinitis pigmentosa was reported in another family. This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature |
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| Retinal disorders v7.2 | GPATCH11 | Achchuthan Shanmugasundram edited their review of gene: GPATCH11: Changed rating: AMBER; Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, retinal disorder, MONDO:0005283 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.2 | GPATCH11 |
Achchuthan Shanmugasundram gene: GPATCH11 was added gene: GPATCH11 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: GPATCH11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPATCH11 were set to 39572588 Phenotypes for gene: GPATCH11 were set to neuronevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: GPATCH11 was set to GREEN Added comment: PMID:39572588 reported 12 individuals from six unrelated families presenting with a syndromic disease and they were identified with biallelic variants in GPATCH11 gene. Intellectual disability was present in three unrelated families, while global developmental delay was reported in all. This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature |
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