Differences of Sex Development
Gene: FEZF1

FEZF1 (FEZ family zinc finger 1)
EnsemblGeneIds (GRCh38): ENSG00000128610
EnsemblGeneIds (GRCh37): ENSG00000128610
OMIM: 613301, Gene2Phenotype
FEZF1 is in 4 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 25192046 - 2 families with kallman syndrome, symptoms include absent puberty, micropenis, undescended testis. Families were homozygous for a missense and nonsense.

PMID: 32400067 - heterozygous patient with Kallman and additional variants in other genes

Summary: 2 families only
Created: 15 Jul 2020, 4:27 a.m. | Last Modified: 15 Jul 2020, 4:27 a.m.

Panel Version: 0.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypogonadotropic hypogonadism 22, with or without anosmia 616030

Publications

PMID: 25192046
32400067

Created: 15 Jul 2020, 4:27 a.m.
Last Modified: 15 Jul 2020, 4:27 a.m.
Panel version: 0.72

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Hypogonadotropic hypogonadism 22, with or without anosmia 616030

OMIM

613301

Clinvar variants

Variants in FEZF1

Penetrance

None

Publications

Panels with this gene