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FHOD1

Synonyms
FHOS
External resources
Summary
This gene encodes a protein which is a member of the formin/diaphanous family of proteins. The gene is ubiquitously expressed but is found in abundance in the spleen. The encoded protein has sequence homology to diaphanous and formin proteins within the Formin Homology (FH)1 and FH2 domains. It also contains a coiled-coil domain, a collagen-like domain, two nuclear localization signals, and several potential PKC and PKA phosphorylation sites. It is a predominantly cytoplasmic protein and is expressed in a variety of human cell lines. Alternative splicing results in multiple transcript variants.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
33
Likely pathogenic
0
VUS
4,312
Likely benign
478
Benign
0

Patient phenotypes

Proportions of phenotypes among 33 patients carring pathogenic or likely pathogenic variants on FHOD1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
21.2%
Abnormality of the nervous system
21.2%
Abnormality of the eye
18.2%
Abnormality of blood and blood-forming tissues
15.2%
Abnormality of the ear
15.2%
Abnormality of head or neck
12.1%
Abnormality of the genitourinary system
12.1%
Abnormality of the musculoskeletal system
9.1%
Abnormality of limbs
6.1%
Neoplasm
6.1%
Abnormality of the immune system
3%
Abnormality of the integument
3%
Constitutional symptom
3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Growth abnormality
0%

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