amelogenesis imperfecta type 1
MONDO:0015047Mondo
Findings
No curated finding names amelogenesis imperfecta type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Genes
5 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.
- ENAMHGNC:3344
- Strong · PanelApp Australia · Semidominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- ACP4HGNC:14376
- Supportive · Orphanet · Autosomal dominant · 2021
- HGNC:452HGNC:452
- Supportive · Orphanet · Autosomal dominant · 2021
- ITGB6HGNC:6161
- Supportive · Orphanet · Autosomal dominant · 2021
- LAMB3HGNC:6490
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: amelogenesis imperfecta type 1
- Also called
- hypoplastic amelogenesis imperfecta