Bethlem myopathy 1A
MONDO:0024530Mondo
Findings
No curated finding names Bethlem myopathy 1A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Slowly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- Axial muscle weaknessHPOHP:0003327
- 1 of 1 reported patient
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 1 of 1 reported patient
- Decreased fetal movementHPOHP:0001558
- 1 of 1 reported patient
- Difficulty climbing stairsHPOHP:0003551
- 1 of 1 reported patient
- Distal lower limb amyotrophyHPOHP:0008944
- 1 of 1 reported patient
- Elbow contractureHPOHP:0034391
- 3 of 3 reported patients
- EMG: myopathic abnormalitiesHPOHP:0003458
- 1 of 1 reported patient
- Fatty replacement of skeletal muscleHPOHP:0012548
- 1 of 1 reported patient
- Fiber type groupingHPOHP:0033685
- 1 of 1 reported patient
- Follicular hyperkeratosisHPOHP:0007502
- 1 of 1 reported patient
- Keratosis pilarisHPOHP:0032152
- 1 of 1 reported patient
Show the remaining 26
- Macroscopic hematuriaHPOHP:0012587
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Muscle fiber necrosisHPOHP:0003713
- 1 of 1 reported patient
- Neck muscle weaknessHPOHP:0000467
- 1 of 1 reported patient
- Pes cavusHPOHP:0001761
- 1 of 1 reported patient
- ProteinuriaHPOHP:0000093
- 1 of 1 reported patient
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COL6A1HGNC:2211
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- COL6A3HGNC:2213
- Definitive · Ambry Genetics · Semidominant · 2015
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- COL6A2HGNC:2212
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020