Hypogonadotropic hypogonadism
Gene: FEZF1

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

4 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 0/4 sources. Although only two variants have been reported, both were found in consanguineous Kurdish families, segregation was demonstrated in homozygous affected family members and heterozygous unaffected members. Supporting functional analysis was provided for one variant and neither was present on 1000 Genomes, Exac or NHLBI Exome Sequencing Project databases (PMID 25192046). Three expert reviewers recommend Green.
Created: 13 Oct 2016, 7:43 a.m.

Comment on publications: Two consanguineous Kurdish families each with two hmz children for different LOF variants, htz parents and siblings were unaffected
Created: 1 Jun 2016, 12:37 p.m.

Created: 1 Jun 2016, 12:37 p.m.

Panel version: 0.78

Richard Quinton (Newcastle University)

Green List (high evidence)

Created: 24 May 2016, 1:01 p.m.

Panel version: 0.2

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Created: 24 May 2016, 12:18 p.m.

Panel version: 0.2

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Created: 21 May 2016, 1:16 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
OMIM

Phenotypes

Hypogonadotropic hypogonadism 22, with or without anosmia, 616030

OMIM

613301

Clinvar variants

Variants in FEZF1

Penetrance

Complete

Publications

25192046

Panels with this gene

History Filter Activity

28 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

28th Oct 2016: This panel was revised after external expert review and internal discussion. For several genes that have been shown to contribute to the disorder in a digenic/polygenic manner, the decision was made to only include genes as green if biallelic variants had been reported independently from other genes. Genes with a monoallelic mechanism, that have been shown in some studies in conjunction with variants in other genes, were made red as monoallelic variants in these genes may not provide a complete diagnosis.

1 Jun 2016, Gel status: 4