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Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 | DIAPH1 | Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: DIAPH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 | DIAPH1 | Sarah Leigh reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 | DIAPH1 |
Achchuthan Shanmugasundram Source NHS GMS was added to DIAPH1. Source Expert Review Green was added to DIAPH1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 | DIAPH1 | Achchuthan Shanmugasundram Classified gene: DIAPH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 | DIAPH1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating at the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 | DIAPH1 | Achchuthan Shanmugasundram Gene: diaph1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.34 | DIAPH1 | Achchuthan Shanmugasundram Phenotypes for gene: DIAPH1 were changed from microcephaly; epilepsy; cortical blindness; poor lymphocyte activation and proliferation, defective B-cell maturation, and lack of naive T cells. to Seizures, cortical blindness, microcephaly syndrome, OMIM:616632 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.33 | DIAPH1 | Achchuthan Shanmugasundram Publications for gene: DIAPH1 were set to PMID: 35748970; PMID: 33662367 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.32 | DIAPH1 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: DIAPH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.32 | DIAPH1 | Achchuthan Shanmugasundram reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33662367; Phenotypes: Seizures, cortical blindness, microcephaly syndrome, OMIM:616632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.582 | DIAPH1 |
Inga Nartisa gene: DIAPH1 was added gene: DIAPH1 was added to Primary immunodeficiency. Sources: Expert Review,Literature Mode of inheritance for gene: DIAPH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DIAPH1 were set to PMID: 35748970; PMID: 33662367 Phenotypes for gene: DIAPH1 were set to microcephaly; epilepsy; cortical blindness; poor lymphocyte activation and proliferation, defective B-cell maturation, and lack of naive T cells. Review for gene: DIAPH1 was set to GREEN Added comment: Sources: Expert Review, Literature |