progressive familial heart block type IB
Findings
No curated finding names progressive familial heart block type IB yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene.
Definition from the Mondo Disease Ontology (MONDO:0011474), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
3 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.
- Prolonged QT intervalHPOHP:0001657
- 6 of 71 reported patients
- ArrhythmiaHPOHP:0011675
- Atrioventricular blockHPOHP:0001678
Genes
1 gene
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.
- TRPM4HGNC:17993
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Moderate · Genomics England PanelApp · Autosomal dominant · 2020
- Moderate · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Moderate · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: progressive familial heart block type IB
- Also called
- PFHB1Bprogressive familial heart block caused by mutation in TRPM4TRPM4 progressive familial heart block