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Arthrogryposis

Gene: KLHL7

Green List (high evidence)

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

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
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

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

9 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).

5 Jan 2017, Gel status: 2

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for KLHL7 were set to Cold-induced sweating syndrome 3 617055

5 Jan 2017, Gel status: 2

Set publications

Alice Gardham (Genomics England)

Publications for KLHL7 were set to 27392078

5 Jan 2017, Gel status: 2

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for KLHL7 was changed to BIALLELIC, autosomal or pseudoautosomal

5 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KLHL7 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KLHL7 was created by ellenmcdonagh