Activity
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| White matter disorders and cerebral calcification - narrow panel v7.15 | ATP11A | Achchuthan Shanmugasundram Tag Q1_25_ promote_green was removed from gene: ATP11A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v7.15 | ATP11A | Achchuthan Shanmugasundram reviewed gene: ATP11A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v7.14 | ATP11A |
Achchuthan Shanmugasundram Source NHS GMS was added to ATP11A. Source Expert Review Green was added to ATP11A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| White matter disorders and cerebral calcification - narrow panel v6.7 | ATP11A | Arina Puzriakova Tag watchlist was removed from gene: ATP11A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v6.7 | ATP11A | Arina Puzriakova Phenotypes for gene: ATP11A were changed from Neurodevelopmental disorder to Leukodystrophy, hypomyelinating, 24, OMIM:619851 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v6.6 | ATP11A | Sarah Leigh Added comment: Comment on publications: PMID: 39432785 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v6.6 | ATP11A | Sarah Leigh Publications for gene: ATP11A were set to 34403372; 39432785 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v6.5 | ATP11A | Sarah Leigh Tag Q1_25_ promote_green tag was added to gene: ATP11A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v6.5 | ATP11A | Sarah Leigh reviewed gene: ATP11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34403372, 39432785; Phenotypes: Leukodystrophy, hypomyelinating, 24, OMIM:619851, leukodystrophy, hypomyelinating, 24 MONDO:0859242; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v6.5 | ATP11A | Sarah Leigh Publications for gene: ATP11A were set to 34403372 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.204 | ATP11A | Ivone Leong Entity copied from Intellectual disability v3.1353 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.204 | ATP11A |
Ivone Leong gene: ATP11A was added gene: ATP11A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature,Expert Review Amber watchlist tags were added to gene: ATP11A. Mode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP11A were set to 34403372 Phenotypes for gene: ATP11A were set to Neurodevelopmental disorder |
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