KLHL41 Chromosome 2
Kelch like family member 41
Upload your DNA to see your personal genotypes for variants in KLHL41.
What This Gene Does
This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 2015]
Gene Info
Gene Group
"Kelch like|BTB domain containing"
Locus Type
gene with protein product
Location
2q31.1
Ensembl
ENSG00000239474
Associated Conditions (4)
Nemaline myopathy 9
Inborn genetic diseases
KLHL41-related disorder
Nemaline myopathy
Key Variants
RS147650614
Conflicting classifications of pathogenicity
Nemaline myopathy 9, Nemaline myopathy 9
Health Risk
RS150233736
Conflicting classifications of pathogenicity
Nemaline myopathy 9, Inborn genetic diseases, KLHL41-related disorder
Health Risk
RS181228139
Conflicting classifications of pathogenicity
Nemaline myopathy 9, Inborn genetic diseases, Nemaline myopathy 9
Health Risk
RS1131691443
Likely pathogenic
Health Risk
RS1364684686
Likely pathogenic
Nemaline myopathy 9, Nemaline myopathy 9
Health Risk
RS1574349073
Likely pathogenic
Health Risk
RS2468055654
Likely pathogenic
Nemaline myopathy 9, Nemaline myopathy 9
Health Risk
RS754460870
Likely pathogenic
Nemaline myopathy 9, Nemaline myopathy 9
Health Risk
RS1185815773
Pathogenic
Nemaline myopathy 9, Nemaline myopathy 9
Health Risk
RS1247404453
Pathogenic
Nemaline myopathy 9, Nemaline myopathy 9
Health Risk
RS1288106608
Pathogenic
Nemaline myopathy 9, Nemaline myopathy 9
Health Risk
RS1317318638
Pathogenic
Nemaline myopathy 9, Nemaline myopathy 9
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147650614 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 9, Nemaline myopathy 9 |
| RS150233736 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 9, Inborn genetic diseases, KLHL41-related disorder |
| RS181228139 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 9, Inborn genetic diseases, Nemaline myopathy 9 |
| RS1131691443 | Health Risk | Likely pathogenic | — |
| RS1364684686 | Health Risk | Likely pathogenic | Nemaline myopathy 9, Nemaline myopathy 9 |
| RS1574349073 | Health Risk | Likely pathogenic | — |
| RS2468055654 | Health Risk | Likely pathogenic | Nemaline myopathy 9, Nemaline myopathy 9 |
| RS754460870 | Health Risk | Likely pathogenic | Nemaline myopathy 9, Nemaline myopathy 9 |
| RS1185815773 | Health Risk | Pathogenic | Nemaline myopathy 9, Nemaline myopathy 9 |
| RS1247404453 | Health Risk | Pathogenic | Nemaline myopathy 9, Nemaline myopathy 9 |
| RS1288106608 | Health Risk | Pathogenic | Nemaline myopathy 9, Nemaline myopathy 9 |
| RS1317318638 | Health Risk | Pathogenic | Nemaline myopathy 9, Nemaline myopathy 9 |
| RS1574349645 | Health Risk | Pathogenic | Nemaline myopathy 9, Nemaline myopathy 9 |
| RS2105309832 | Health Risk | Pathogenic | Nemaline myopathy 9, Nemaline myopathy 9 |
| RS2105312506 | Health Risk | Pathogenic | Nemaline myopathy 9, Nemaline myopathy 9 |
| RS2105312600 | Health Risk | Pathogenic | Nemaline myopathy 9, Nemaline myopathy 9 |
| RS2468054831 | Health Risk | Pathogenic | Nemaline myopathy 9, Nemaline myopathy 9 |
| RS2468055198 | Health Risk | Pathogenic | Nemaline myopathy 9, Nemaline myopathy 9 |
| RS2468059698 | Health Risk | Pathogenic | Nemaline myopathy 9, Nemaline myopathy 9 |
| RS2468062223 | Health Risk | Pathogenic | Nemaline myopathy 9, Nemaline myopathy 9 |
| RS730882257 | Health Risk | Pathogenic | Nemaline myopathy 9, Nemaline myopathy 9 |
| RS730882258 | Health Risk | Pathogenic | Nemaline myopathy 9, Nemaline myopathy 9 |
| RS730882259 | Health Risk | Pathogenic | Nemaline myopathy 9, Nemaline myopathy 9 |
| RS730882260 | Health Risk | Pathogenic | Nemaline myopathy 9, Nemaline myopathy 9 |
| RS779140230 | Health Risk | Pathogenic | Nemaline myopathy 9, Nemaline myopathy 9 |
| RS730882235 | Health Risk | Pathogenic/Likely pathogenic | Nemaline myopathy 9, Nemaline myopathy, Nemaline myopathy 9 |
| RS749464576 | Health Risk | Pathogenic/Likely pathogenic | Nemaline myopathy 9, KLHL41-related disorder, Nemaline myopathy 9 |
| RS775513051 | Health Risk | Pathogenic/Likely pathogenic | Nemaline myopathy 9, Nemaline myopathy 9, Nemaline myopathy 9 |