Activity
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11 actions
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| Intellectual disability v9.340 | ZNFX1 | Arina Puzriakova Tag gene-checked was removed from gene: ZNFX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.41 | ZNFX1 |
Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: ZNFX1. Tag Q1_24_NHS_review was removed from gene: ZNFX1. |
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| Intellectual disability v7.41 | ZNFX1 | Achchuthan Shanmugasundram reviewed gene: ZNFX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.40 | ZNFX1 |
Achchuthan Shanmugasundram Source NHS GMS was added to ZNFX1. Source Expert Review Green was added to ZNFX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v5.557 | ZNFX1 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ZNFX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.492 | ZNFX1 |
Sarah Leigh Tag Q1_24_promote_green tag was added to gene: ZNFX1. Tag Q1_24_NHS_review tag was added to gene: ZNFX1. |
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| Intellectual disability v5.492 | ZNFX1 | Sarah Leigh Classified gene: ZNFX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.492 | ZNFX1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.492 | ZNFX1 | Sarah Leigh Gene: znfx1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.491 | ZNFX1 | Sarah Leigh edited their review of gene: ZNFX1: Added comment: ZNFX1 variants are associated with Immunodeficiency 91 and hyperinflammation (OMIM:619644). Neurological involvement has been observed in at least 11 patients with OMIM:619644 (PMID:33876776;33872655). Of these, four had seizures, three had developmental regression, and one had developmental delay. The incidence of neurological involvement could be higher, but the mortality of affected children is high; in PMID:33872655 11/15 cases were deceased, with seven of these not surviving to 3 months of age.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.491 | ZNFX1 |
Sarah Leigh gene: ZNFX1 was added gene: ZNFX1 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: ZNFX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNFX1 were set to 33876776; 33872655 Phenotypes for gene: ZNFX1 were set to Immunodeficiency 91 and hyperinflammation, OMIM:619644; immunodeficiency 91 and hyperinflammation, MONDO:0030491 Review for gene: ZNFX1 was set to AMBER Added comment: Sources: Literature |
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