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Newborns main panel

Gene: FKBP10

Green List (high evidence)
FKBP10 (FK506 binding protein 10)
EnsemblGeneIds (GRCh38): ENSG00000141756
EnsemblGeneIds (GRCh37): ENSG00000141756
OMIM: 607063, Gene2Phenotype
FKBP10 is in 5 panels

1 review

Arina Puzriakova (Genomics England Curator)

Special Consideration: Newborns Variant Discussion (NVD) recommended.

Additional Information: Sheffield Diagnostic Genetics Service ([email protected]) have requested to be involved at the variant review stage. They will be able to assist with variant interpretation prior to reporting.
Created: 11 Feb 2026, 6:25 p.m. | Last Modified: 11 Feb 2026, 6:25 p.m.
Panel Version: 0.503
The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
https://search.thegencc.org/submissions/GENCC_000105-HGNC_18169-MONDO_0012592-HP_0000007-GENCC_100001 Variants in this gene have been reported in at least six probands from four publications (20362275: Alanay et al. 2010; 21567934: Shaheen et al. 2011; 20839288: Kelley et al. 2011; 27762305: Xu et al. 2017).
Created: 31 Dec 2025, 2:27 p.m. | Last Modified: 31 Dec 2025, 2:27 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:27 p.m.
Last Modified: 31 Dec 2025, 2:27 p.m.
Panel version: 0.503

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Osteogenesis imperfecta, type XI
Tags
special_consideration
OMIM
607063
Clinvar variants
Variants in FKBP10
Penetrance
None
Panels with this gene

History Filter Activity

11 Feb 2026, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: FKBP10.

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: FKBP10 was added gene: FKBP10 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKBP10 were set to Osteogenesis imperfecta, type XI