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Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 FCHO1 Arina Puzriakova Tag for-review was removed from gene: FCHO1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 FCHO1 Arina Puzriakova commented on gene: FCHO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 FCHO1 Arina Puzriakova Source Expert Review Green was added to FCHO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.341 FCHO1 Arina Puzriakova Classified gene: FCHO1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.341 FCHO1 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.341 FCHO1 Arina Puzriakova Gene: fcho1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.340 FCHO1 Arina Puzriakova Tag for-review tag was added to gene: FCHO1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.159 FCHO1 Sarah Leigh Classified gene: FCHO1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.159 FCHO1 Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. At least 5 biallelic variants reported in at least 5 unrelated cases, together with supportive functional studies.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.159 FCHO1 Sarah Leigh Gene: fcho1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 FCHO1 Zornitza Stark reviewed gene: FCHO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32098969, 30822429; Phenotypes: Combined immunodeficiency, T cells: low, poor proliferation, B cells: normal number, Recurrent infections (viral, mycobacteria, bacterial, fungal), lymphoproliferation, Failure to thrive, Increased activation-induced T-cell death, Defective clathrin-mediated endocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 FCHO1 Louise Daugherty reviewed gene: FCHO1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30822429; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 FCHO1 Louise Daugherty Publications for gene FCHO1 were updated from 32048120; 32086639 to 32086639; 30822429; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.14 FCHO1 Louise Daugherty gene: FCHO1 was added
gene: FCHO1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: FCHO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FCHO1 were set to 32048120; 32086639
Phenotypes for gene: FCHO1 were set to Recurrent infections, lymphoproliferation, increased activation-induced T-cell death, defective clathrin-mediated endocytosis; FCHO1 deficiency; Immunodeficiencies affecting cellular and humoral immunity