Seckel syndrome 1
MONDO:0008869Mondo
Findings
No curated finding names Seckel syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene.
Definition from the Mondo Disease Ontology (MONDO:0008869), read 2026-09-29. CC BY 4.0.
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.
- ATRHGNC:882
- Definitive · Illumina · Autosomal recessive · 2021
- Strong · Ambry Genetics · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: Seckel syndrome 1
- Also called
- ATR Seckel syndromeSCKL1Seckel syndrome 3Seckel syndrome caused by mutation in ATRSeckel syndrome type 1