Arthrogryposis
Gene: KLHL7

KLHL7 (kelch like family member 7)
EnsemblGeneIds (GRCh38): ENSG00000122550
EnsemblGeneIds (GRCh37): ENSG00000122550
OMIM: 611119, Gene2Phenotype
KLHL7 is in 7 panels

1 review

Alice Gardham (Genomics England)

I don't know

Comment on list classification: Made green after internal discussion
Created: 9 Jan 2017, 2:53 p.m.

Mutations identified in at least 5 patients from 4 different Turkish families. Associated with early contractures ?congenital
Created: 5 Jan 2017, 9:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cold-induced sweating syndrome 3 617055

Publications

27392078

Created: 5 Jan 2017, 9:45 a.m.

Panel version: 1.231

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Cold-induced sweating syndrome 3 617055

OMIM

611119

Clinvar variants

Variants in KLHL7

Penetrance

Complete

Publications

27392078

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.

9 Jan 2017, Gel status: 4