Hypogonadotropic hypogonadism (GMS)
Gene: FEZF1EnsemblGeneIds (GRCh38): ENSG00000128610
EnsemblGeneIds (GRCh37): ENSG00000128610
OMIM: 613301, Gene2Phenotype
FEZF1 is in 4 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 10 Dec 2025, 2:48 p.m. | Last Modified: 10 Dec 2025, 2:48 p.m.
Panel Version: 4.3
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: There are two unrelated cases and some functional evidence available in support of the association of this gene to hypogonadotropic hypogonadism. Hence, this gene can be rated green on the next GMS update.Created: 19 Jul 2024, 10:32 a.m. | Last Modified: 19 Jul 2024, 10:32 a.m.
Panel Version: 3.20
PMID:25192046 reported the identification of two different homozygous variants (c.832C>T/ p.His278Tyr and c.2270C>T/ p.Arg724Ter) in two unrelated Kurdish families with Kallmann syndrome. In addition, there is functional evidence for c.832C>T variant.
This gene has been associated with relevant phenotypes in OMIM (MIM #616030) and Gene2Phenotype (with 'strong' rating on the DD panel)Created: 19 Jul 2024, 9:45 a.m. | Last Modified: 19 Jul 2024, 10:29 a.m.
Panel Version: 3.18
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypogonadotropic hypogonadism 22, with or without anosmia, OMIM:616030
Publications
Simon Thomas (Wessex Regional Genetics Laboratory)
Rare/founder mutations, typically in consanguinous families, possibly oligogenicCreated: 22 Mar 2019, 5:03 p.m.
Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- South West GLH
- Phenotypes
-
- Hypogonadotropic hypogonadism 22, with or without anosmia, OMIM:616030
- OMIM
- 613301
- Clinvar variants
- Variants in FEZF1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: FEZF1.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to FEZF1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: fezf1 has been classified as Amber List (Moderate Evidence).
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: FEZF1 were set to
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: FEZF1.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: FEZF1 were changed from Hypogonadotropic hypogonadism type 22 (OMIM 616030) to Hypogonadotropic hypogonadism 22, with or without anosmia, OMIM:616030
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: fezf1 has been classified as Amber List (Moderate Evidence).
Added New Source
Ivone Leong (Genomics England Curator)Source Wessex and West Midlands GLH was added to FEZF1.
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Hypogonadotropic hypogonadism type 22 (OMIM 616030) for gene: FEZF1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: FEZF1 was added gene: FEZF1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: FEZF1 was set to BIALLELIC, autosomal or pseudoautosomal