Fetal anomalies
Gene: FKBP8

FKBP8 (FK506 binding protein 8)
EnsemblGeneIds (GRCh38): ENSG00000105701
EnsemblGeneIds (GRCh37): ENSG00000105701
OMIM: 604840, Gene2Phenotype
FKBP8 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spina bifida, MONDO:0008449

Created: 20 Jan 2022, 11:47 p.m.
Last Modified: 20 Jan 2022, 11:47 p.m.
Panel version: 0.2650

Belinda Chong (Victorian Clinical Genetics Services)

Red List (low evidence)

Not associated with a phenotype in OMIM.

PMID: 32969478 - Tian et al 2020 - performed Sanger sequencing of FKBP8 on DNA samples from 472 spina bifida (SB) affected fetuses and 565 unaffected controls. 5 different rare heterozygous variants (MAF ≤ 0.001) were identified among the SB patients, while no deleterious rare variants were identified in the controls. 4 of the variants are missense, the other is a stop-gain. 2 cases were in white-Hispanic patients while the other 3 were non-white Hispanic. Functional studies showed that p.Glu140* affected FKBP8 localization to the mitochondria and impaired its interaction with BCL2 ultimately leading to an increase in cellular apoptosis. p.Ser3Leu, p.Lys315Asn and p.Ala292Ser variants decreased FKBP8 protein level. Gene expression was studied in mouse Fkbp8-/- embryos and found to be abnormal. Previous mouse models have shown neural tube defects. The authors concluded that functional variants of FKBP8 are risk factors for spina bifida.
Created: 18 Jan 2022, 2:11 a.m. | Last Modified: 18 Jan 2022, 2:11 a.m.

Panel Version: 0.2366

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
spina bifida HP:0002414

Publications

32969478

Created: 18 Jan 2022, 2:11 a.m.
Last Modified: 18 Jan 2022, 2:11 a.m.
Panel version: 0.2366

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Genomics England PanelApp

Phenotypes

Spina bifida, MONDO:0008449

OMIM

604840

Clinvar variants

Variants in FKBP8

Penetrance

None

Publications

Panels with this gene