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  3. KLHL40
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Arthrogryposis

Gene: KLHL40

Green List (high evidence)
KLHL40 (kelch like family member 40)
EnsemblGeneIds (GRCh38): ENSG00000157119
EnsemblGeneIds (GRCh37): ENSG00000157119
OMIM: 615340, Gene2Phenotype
KLHL40 is in 6 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on list classification: Recognised on G2P and many reported cases
Created: 22 Dec 2016, 11:29 a.m.
Associated with severe form including arthrogryposis
Created: 22 Dec 2016, 11:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 8, autosomal recessive 615348

Publications

Created: 22 Dec 2016, 11:29 a.m.

Panel version: 1.62

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert
  • Expert list
Phenotypes
  • Nemaline myopathy 8, autosomal recessive, 615348
OMIM
615340
Clinvar variants
Variants in KLHL40
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.

22 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

22 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for KLHL40 were set to 23746549

22 Dec 2016, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for KLHL40 was changed to BIALLELIC, autosomal or pseudoautosomal

22 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

21 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KLHL40 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen KLHL40 was added to Arthrogryposispanel. Source: Expert

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KLHL40 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KLHL40 was created by ellenmcdonagh