Activity
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9 actions
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| Hereditary neuropathy or pain disorder v6.148 | ATAD3A |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: ATAD3A. Tag Q3_24_NHS_review was removed from gene: ATAD3A. |
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| Hereditary neuropathy or pain disorder v6.148 | ATAD3A | Sarah Leigh commented on gene: ATAD3A: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | ATAD3A |
Sarah Leigh Source NHS GMS was added to ATAD3A. Source Expert Review Green was added to ATAD3A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v6.29 | ATAD3A | Sarah Leigh Phenotypes for gene: ATAD3A were changed from global developmental delay; hypotonia; optic atrophy; axonal neuropathy; hypertrophic cardiomyopathy to Harel-Yoon syndrome, OMIM:617183; Harel-Yoon syndrome, MONDO:0014958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.24 | ATAD3A |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ATAD3A. Tag Q3_24_NHS_review tag was added to gene: ATAD3A. |
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| Hereditary neuropathy or pain disorder v6.24 | ATAD3A | Sarah Leigh Classified gene: ATAD3A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.24 | ATAD3A | Sarah Leigh Gene: atad3a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.20 | ATAD3A | Sarah Leigh reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27640307; Phenotypes: Harel-Yoon syndrome, OMIM:617183, Harel-Yoon syndrome, MONDO:0014958; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | ATAD3A |
Alexander Rossor gene: ATAD3A was added gene: ATAD3A was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATAD3A were set to 27640307 Phenotypes for gene: ATAD3A were set to global developmental delay; hypotonia; optic atrophy; axonal neuropathy; hypertrophic cardiomyopathy Penetrance for gene: ATAD3A were set to Complete Mode of pathogenicity for gene: ATAD3A was set to Other Review for gene: ATAD3A was set to GREEN Added comment: Both de novo and recessive. Multiple unrelated indivudals reported with axonal neuropathy Sources: Expert list |
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