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Mendeliome

Gene: FKBP6

Green List (high evidence)

FKBP6 (FK506 binding protein 6)
EnsemblGeneIds (GRCh38): ENSG00000077800
EnsemblGeneIds (GRCh37): ENSG00000077800
OMIM: 604839, Gene2Phenotype
FKBP6 is in 1 panel

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spermatogenic failure 77, MIM# 620103

Dean Phelan (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 36150389 - large cohort study of men with severe spermatogenic failure (SPGF), identified six individuals with rare bi-allelic loss of function variants in FKBP6. RT-qPCR and immunofluorescence confirmed lack of FKBP6 expression. In mice, Fkbp6 has also been shown to be essential for spermatogenesis.
Sources: Literature
Created: 6 Oct 2022, 3:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spermatogenic failure (MONDO:0004983), FKBP6-related

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spermatogenic failure 77, MIM# 620103
OMIM
604839
Clinvar variants
Variants in FKBP6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FKBP6 were changed from Spermatogenic failure (MONDO:0004983), FKBP6-related to Spermatogenic failure 77, MIM# 620103

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fkbp6 has been classified as Green List (High Evidence).

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fkbp6 has been classified as Green List (High Evidence).

6 Oct 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Dean Phelan (Victorian Clinical Genetics Services)

gene: FKBP6 was added gene: FKBP6 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: FKBP6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKBP6 were set to PMID: 36150389 Phenotypes for gene: FKBP6 were set to Spermatogenic failure (MONDO:0004983), FKBP6-related Review for gene: FKBP6 was set to GREEN