Congenital muscular dystrophy and congenital myopathy
Gene: KLHL40EnsemblGeneIds (GRCh38): ENSG00000157119
EnsemblGeneIds (GRCh37): ENSG00000157119
OMIM: 615340, Gene2Phenotype
KLHL40 is in 6 panels
4 reviews
Louise Daugherty (Genomics England Curator)
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.Created: 30 Apr 2019, 10:09 a.m.
Rachael Mein (Viapath at Guy's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 8, autosomal recessive, 615348
Publications
Variants in this GENE are reported as part of current diagnostic practice
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 8, autosomal recessive, 615348
Publications
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Severe presentations described to date including fetal akinesia / contracture spectrum (on arthrogryposis panel). Mainly missense and relatively large proportion of Japanese families. Although more likely to present as arthrogryposis I could envisage an overlapping phenotype with congenital myopathy, therefore considered green.Created: 3 Feb 2017, 12:07 p.m.
Comment on list classification: Severe presentations described to date including fetal akinesia / contracture spectrum (on arthrogryposis panel). Mainly missense and relatively large proportion of Japanese families. Although more likely to present as arthrogryposis I could envisage an overlapping phenotype with congenital myopathy, therefore considered green.Created: 3 Feb 2017, 12:06 p.m.
Comment when marking as ready: Severe presentations described to date including fetal akinesia / contracture spectrum (on arthrogryposis panel). Mainly missense and relatively large proportion of Japanese families. Although more likely to present as arthrogryposis overlapping phenotype would be congenital myopathy, therefore considered green.Created: 3 Feb 2017, 12:06 p.m.
Severe presentations described to date including fetal akinesia / contracture spectrum (on arthrogryposis panel). Mainly missense and relatively large proportion of Japanese families. Although more likely to present as arthrogryposis I could envisage an overlapping phenotype with congenital myopathy, therefore considered green.Created: 31 Jan 2017, 9:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 8, autosomal recessive 615348
Publications
- PMID 23746549
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London South GLH
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- NHS GMS
- Expert
- Phenotypes
-
- Nemaline myopathy 8, autosomal recessive, OMIM:615348
- OMIM
- 615340
- Clinvar variants
- Variants in KLHL40
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: KLHL40 was added gene: KLHL40 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,London South GLH Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLHL40 were set to 23746549 Phenotypes for gene: KLHL40 were set to Nemaline myopathy 8, autosomal recessive, OMIM:615348 Penetrance for gene: KLHL40 were set to Complete