Trait
Gowers sign
A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.
Summary
- Also called
- Gower sign, Positive Gower sign, Positive Gowers sign
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
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Get my Genome Test83 genes linked to Gowers sign
Changes in these genes cause rare conditions in which Gowers sign 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 |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Always | In 1 condition |
| CAV3caveolin 3 | Always | In 1 condition |
| CFL2cofilin 2 | Always | In 1 condition |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Always | In 1 condition |
| FDX2ferredoxin 2 | Always | In 1 condition |
| FILIP1filamin A interacting protein 1 | Always | In 1 condition |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Always | In 1 condition |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Always | In 1 condition |
| JPH1junctophilin 1 | Always | In 1 condition |
| LAMA2laminin subunit alpha 2 | Always | In 1 condition |
| LMNAlamin A/C | Always | In 1 condition |
| PNPLA8patatin like domain 8, phospholipase A2 | Always | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Always | In 1 condition |
| RYR3ryanodine receptor 3 | Always | In 1 condition |
| SGCAsarcoglycan alpha | Always | In 2 conditions |
| STAC3SH3 and cysteine rich domain 3 | Always | In 1 condition |
| UNC45Bunc-45 myosin chaperone B | Always | In 1 condition |
| ACTA1actin alpha 1, skeletal muscle | Very often (80–99%) | In 2 conditions |
| MUSKmuscle associated receptor tyrosine kinase | Very often (80–99%) | In 2 conditions |
| SNUPNsnurportin 1 | Very often (80–99%) | In 1 condition |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Often (30–79%) | In 1 condition |
| BICD2BICD cargo adaptor 2 | Often (30–79%) | In 2 conditions |
| BIN1bridging integrator 1 | Often (30–79%) | In 2 conditions |
| CAPRIN1cell cycle associated protein 1 | Often (30–79%) | In 1 condition |
| COQ7coenzyme Q7, hydroxylase | Often (30–79%) | In 1 condition |
| DNA2DNA replication helicase/nuclease 2 | Often (30–79%) | In 2 conditions |
| FKTNfukutin | Often (30–79%) | In 2 conditions |
| ITGA7integrin subunit alpha 7 | Often (30–79%) | In 1 condition |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Often (30–79%) | In 1 condition |
| PLECplectin | Often (30–79%) | In 2 conditions |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Often (30–79%) | In 2 conditions |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Often (30–79%) | In 1 condition |
| POMKprotein O-mannose kinase | Often (30–79%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Often (30–79%) | In 1 condition |
| PUS1pseudouridine synthase 1 | Often (30–79%) | In 1 condition |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Often (30–79%) | In 1 condition |
| RAPSNreceptor associated protein of the synapse | Often (30–79%) | In 1 condition |
| RYR1ryanodine receptor 1 | Often (30–79%) | In 1 condition |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Often (30–79%) | In 2 conditions |
| SGCBsarcoglycan beta | Often (30–79%) | In 1 condition |
Show 43 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| SPEGstriated muscle enriched protein kinase | Often (30–79%) | In 1 condition |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Often (30–79%) | In 1 condition |
| TNNT1troponin T1, slow skeletal type | Often (30–79%) | In 2 conditions |
| TTNtitin | Often (30–79%) | In 1 condition |
| VAPBVAMP associated protein B and C | Often (30–79%) | In 1 condition |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Sometimes (5–29%) | In 1 condition |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Sometimes (5–29%) | In 2 conditions |
| COL12A1collagen type XII alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COL6A1collagen type VI alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COL6A2collagen type VI alpha 2 chain | Sometimes (5–29%) | In 1 condition |
| COL6A3collagen type VI alpha 3 chain | Sometimes (5–29%) | In 1 condition |
| DAG1dystroglycan 1 | Sometimes (5–29%) | In 2 conditions |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Sometimes (5–29%) | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sometimes (5–29%) | In 1 condition |
| GATMglycine amidinotransferase | Sometimes (5–29%) | In 1 condition |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Sometimes (5–29%) | In 3 conditions |
| GMPPBGDP-mannose pyrophosphorylase B | Sometimes (5–29%) | In 1 condition |
| MICU1mitochondrial calcium uptake 1 | Sometimes (5–29%) | In 1 condition |
| MYPNmyopalladin | Sometimes (5–29%) | In 2 conditions |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Sometimes (5–29%) | In 1 condition |
| PHKG1phosphorylase kinase catalytic subunit gamma 1 | Sometimes (5–29%) | In 1 condition |
| SECISBP2SECIS binding protein 2 | Sometimes (5–29%) | In 1 condition |
| SELENONselenoprotein N | Sometimes (5–29%) | In 1 condition |
| SGCGsarcoglycan gamma | Sometimes (5–29%) | In 2 conditions |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Sometimes (5–29%) | In 2 conditions |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Sometimes (5–29%) | In 1 condition |
| TPM2tropomyosin 2 | Sometimes (5–29%) | In 2 conditions |
| TPM3tropomyosin 3 | Sometimes (5–29%) | In 1 condition |
| NEFLneurofilament light chain | Rarely (1–4%) | In 1 condition |
| ASAH1N-acylsphingosine amidohydrolase 1 | Not recorded | In 1 condition |
| CHKBcholine kinase beta | Not recorded | In 1 condition |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Not recorded | In 1 condition |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Not recorded | In 1 condition |
| DMDdystrophin | Not recorded | In 1 condition |
| DOK7docking protein 7 | Not recorded | In 1 condition |
| INPP5Kinositol polyphosphate-5-phosphatase K | Not recorded | In 1 condition |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Not recorded | In 1 condition |
| SGCDsarcoglycan delta | Not recorded | In 1 condition |
| TK2thymidine kinase 2 | Not recorded | In 1 condition |
| TRAPPC11trafficking protein particle complex subunit 11 | Not recorded | In 1 condition |
| TRIM32tripartite motif containing 32 | Not recorded | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Not recorded | In 1 condition |
| VMA21vacuolar ATPase assembly factor VMA21 | 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.
Broader traits
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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