Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

Gene: FCHO1

Amber List (moderate evidence)

FCHO1 (FCH domain only 1)
EnsemblGeneIds (GRCh38): ENSG00000130475
EnsemblGeneIds (GRCh37): ENSG00000130475
OMIM: 613437, Gene2Phenotype
FCHO1 is in 3 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

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

Sarah Leigh (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

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

Publications

Louise Daugherty (Genomics England Curator)

I don't know

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • IUIS Classification December 2019
Phenotypes
  • Recurrent infections, lymphoproliferation, increased activation-induced T-cell death, defective clathrin-mediated endocytosis
  • FCHO1 deficiency
  • Immunodeficiencies affecting cellular and humoral immunity
Tags
for-review
OMIM
613437
Clinvar variants
Variants in FCHO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: fcho1 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: FCHO1.

5 May 2020, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: fcho1 has been classified as Green List (High Evidence).

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene FCHO1 were updated from 32048120; 32086639 to 32086639; 30822429; 32048120

28 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

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