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Arthrogryposis

Gene: FKBP10

Green List (high evidence)

FKBP10 (FK506 binding protein 10)
EnsemblGeneIds (GRCh38): ENSG00000141756
EnsemblGeneIds (GRCh37): ENSG00000141756
OMIM: 607063, Gene2Phenotype
FKBP10 is in 4 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

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
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

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

4 Jan 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for FKBP10 were set to Bruck syndrome 1 259450

4 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for FKBP10 were set to 20696291

4 Jan 2017, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for FKBP10 was changed to BIALLELIC, autosomal or pseudoautosomal

4 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

4 Jan 2017, Gel status: 1

Upload gene information

Alice Gardham (Genomics England)

FKBP10 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FKBP10 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FKBP10 was created by ellenmcdonagh