Primary immunodeficiencyGene: FCHO1
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).
Created: 20 Oct 2020, 3:05 p.m. | Last Modified: 20 Oct 2020, 3:05 p.m.
Panel Version: 2.341
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.
Created: 5 May 2020, 4:24 p.m. | Last Modified: 5 May 2020, 4:24 p.m.
Panel Version: 2.159
More than 10 affected individuals with bi-allelic variants in this gene reported. Functional data.
Created: 10 Apr 2020, 7:11 a.m. | Last Modified: 10 Apr 2020, 7:11 a.m.
Panel Version: 2.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
Gene: fcho1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: FCHO1.
Gene: fcho1 has been classified as Green List (High Evidence).
Publications for gene FCHO1 were updated from 32048120; 32086639 to 32086639; 30822429; 32048120
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