Hypogonadotropic hypogonadism idiopathic

Gene: FEZF1

Amber List (moderate evidence)

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

2 reviews

Simon Thomas (Wessex Regional Genetics Laboratory)

Red List (low evidence)

Rare/founder mutations, typically in consanguinous families, possibly oligogenic
Created: 22 Mar 2019, 5:03 p.m.

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • 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
Panels with this gene

History Filter Activity

22 Mar 2021, Gel status: 2

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

22 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: fezf1 has been classified as Amber List (Moderate Evidence).

22 Mar 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source Wessex and West Midlands GLH was added to FEZF1.

15 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Hypogonadotropic hypogonadism type 22 (OMIM 616030) for gene: FEZF1

15 Mar 2019, Gel status: 1

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