Arthrogryposis
Gene: FKBP10

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

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on list classification: plenty of literature to confirm pathogenicity
Created: 4 Jan 2017, 4:38 p.m.

Multiple case reports of mutations causing Bruck syndrome which is associated with arthrogryposis
Created: 4 Jan 2017, 4:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bruck syndrome 1 259450

Publications

20696291

Created: 4 Jan 2017, 4:37 p.m.

Panel version: 1.206

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Expert list

Phenotypes

Bruck syndrome 1 259450

OMIM

607063

Clinvar variants

Variants in FKBP10

Penetrance

Complete

Publications

20696291

Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

4 Jan 2017, Gel status: 4