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  3. FCHO1
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Combined Immunodeficiency

Gene: FCHO1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 affected individuals with bi-allelic variants in this gene reported. Functional data.
Sources: Expert list
Created: 3 Apr 2020, 7:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 76, MIM# 619164; 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

Created: 3 Apr 2020, 7:22 a.m.

Panel version: 0.173

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 76, MIM# 619164
  • 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
OMIM
613437
Clinvar variants
Variants in FCHO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FCHO1 were changed from 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 to Immunodeficiency 76, MIM# 619164; 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

3 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FCHO1 was added gene: FCHO1 was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: FCHO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FCHO1 were set to 32098969; 30822429 Phenotypes for gene: FCHO1 were set to 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 Review for gene: FCHO1 was set to GREEN