Trait
Proximal upper limb muscle weakness
A lack of strength of the proximal muscles of the arms.
Summary
- Also called
- Proximal muscle weakness in upper limbs
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Proximal upper limb muscle weakness, and the rest of your genome, with one test.
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Get my Genome Test51 genes linked to Proximal upper limb muscle weakness
Changes in these genes cause rare conditions in which Proximal upper limb muscle weakness is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ANXA11annexin A11 | Always | In 1 condition |
| DNM2dynamin 2 | Always | In 2 conditions |
| GDAP1ganglioside induced differentiation associated protein 1 | Always | In 2 conditions |
| HSPB8heat shock protein family B (small) member 8 | Always | In 1 condition |
| JAG2jagged canonical Notch ligand 2 | Always | In 1 condition |
| JPH1junctophilin 1 | Always | In 1 condition |
| LAMA2laminin subunit alpha 2 | Always | In 1 condition |
| MTMR14myotubularin related protein 14 | Always | In 2 conditions |
| SNUPNsnurportin 1 | Always | In 1 condition |
| TUBA4Atubulin alpha 4a | Always | In 1 condition |
| LMNAlamin A/C | Very often (80–99%) | In 3 conditions |
| ANO5anoctamin 5 | Often (30–79%) | In 2 conditions |
| BIN1bridging integrator 1 | Often (30–79%) | In 1 condition |
| CPOXcoproporphyrinogen oxidase | Often (30–79%) | In 1 condition |
| CRPPACDP-L-ribitol pyrophosphorylase A | Often (30–79%) | In 1 condition |
| EMDemerin | Often (30–79%) | In 1 condition |
| FHL1four and a half LIM domains 1 | Often (30–79%) | In 1 condition |
| HMGCR3-hydroxy-3-methylglutaryl-CoA reductase | Often (30–79%) | In 1 condition |
| KYkyphoscoliosis peptidase | Often (30–79%) | In 1 condition |
| LIPElipase E, hormone sensitive type | Often (30–79%) | In 1 condition |
| MUSKmuscle associated receptor tyrosine kinase | Often (30–79%) | In 1 condition |
| MYF6myogenic factor 6 | Often (30–79%) | In 1 condition |
| PPOXprotoporphyrinogen oxidase | Often (30–79%) | In 1 condition |
| RYR1ryanodine receptor 1 | Often (30–79%) | In 1 condition |
| SLC12A6solute carrier family 12 member 6 | Often (30–79%) | In 1 condition |
| SMPXsmall muscle protein X-linked | Often (30–79%) | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Often (30–79%) | In 1 condition |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Often (30–79%) | In 1 condition |
| TMEM43transmembrane protein 43 | Often (30–79%) | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Often (30–79%) | In 1 condition |
| VWA1von Willebrand factor A domain containing 1 | Often (30–79%) | In 1 condition |
| ABCD3ATP binding cassette subfamily D member 3 | Sometimes (5–29%) | In 2 conditions |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Sometimes (5–29%) | In 2 conditions |
| DYSFdysferlin | Sometimes (5–29%) | In 1 condition |
| GMPPBGDP-mannose pyrophosphorylase B | Sometimes (5–29%) | In 1 condition |
| HMBShydroxymethylbilane synthase | Sometimes (5–29%) | In 1 condition |
| LPIN1lipin 1 | Sometimes (5–29%) | In 1 condition |
| MORC2MORC family CW-type zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Sometimes (5–29%) | In 1 condition |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Sometimes (5–29%) | In 1 condition |
Show 11 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| NEFLneurofilament light chain | Sometimes (5–29%) | In 1 condition |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Sometimes (5–29%) | In 1 condition |
| SBF2SET binding factor 2 | Sometimes (5–29%) | In 1 condition |
| VCPvalosin containing protein | Sometimes (5–29%) | In 2 conditions |
| GIPC1GIPC PDZ domain containing family member 1 | Rarely (1–4%) | In 1 condition |
| LDB3LIM domain binding 3 | Rarely (1–4%) | In 1 condition |
| LRP12LDL receptor related protein 12 | Rarely (1–4%) | In 1 condition |
| NOTCH2NLCnotch 2 N-terminal like C | Rarely (1–4%) | In 1 condition |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Rarely (1–4%) | In 1 condition |
| RILPL1Rab interacting lysosomal protein like 1 | Rarely (1–4%) | In 1 condition |
| TCAPtitin-cap | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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