Distal myopathies
Gene: KLHL9
KLHL9 (kelch like family member 9)
EnsemblGeneIds (GRCh38): ENSG00000198642
EnsemblGeneIds (GRCh37): ENSG00000198642
OMIM: 611201, Gene2Phenotype
KLHL9 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000198642
EnsemblGeneIds (GRCh37): ENSG00000198642
OMIM: 611201, Gene2Phenotype
KLHL9 is in 2 panels
1 review
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as red as only one family described, and no OMIM numberCreated: 22 Feb 2017, 3:38 p.m.
One mutation in KLHL9 described in one large German family with distal myopathy. The gene was added to the panel after discussion with expert Dr Bugiardini (UCL Institute of Neurology)Created: 9 Feb 2017, 2:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
distal myopathy (no OMIM number)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- distal myopathy (no OMIM number)
- OMIM
- 611201
- Clinvar variants
- Variants in KLHL9
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
22 Feb 2017, Gel status: 1
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.
22 Feb 2017, Gel status: 1
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
9 Feb 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)KLHL9 was created by arianna
9 Feb 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)KLHL9 was added to Distal myopathiespanel. Sources: Expert list