Arthrogryposis
Gene: KLHL41EnsemblGeneIds (GRCh38): ENSG00000239474
EnsemblGeneIds (GRCh37): ENSG00000239474
OMIM: 607701, Gene2Phenotype
KLHL41 is in 3 panels
1 review
Alice Gardham (Genomics England)
Mutations identified in five affected unrelated children -two had arthrogryposisCreated: 22 Dec 2016, 11:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 9 615731
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert
- Phenotypes
-
- Nemaline myopathy 9, 615731 (3)
- OMIM
- 607701
- Clinvar variants
- Variants in KLHL41
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
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.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for KLHL41 were set to 24268659
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for KLHL41 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)KLHL41 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)KLHL41 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Expert