Hypogonadotropic hypogonadism
Gene: FEZF1Comment 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 unaffectedCreated: 1 Jun 2016, 12:37 p.m.
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.
This gene has been classified as Green List (High Evidence).
Publications for FEZF1 were set to 25192046
This gene has been classified as Green List (High Evidence).
FEZF1 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: OMIM
FEZF1 was created by sleigh