CECR7

Chr 22AD

cat eye syndrome chromosome region, candidate 7

Also known as: CYCL, SAHL1

NCBI Gene: 100130418ENSG00000237438

Primary Disease Associations & Inheritance

Cat eye syndromeMIM #115470
AD
0
ClinVar variants
0
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— CECR7
Some data sources returned errors (1)

clinvarCount: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CECR7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
CAT EYE SYNDROME; CES
MIM #115470 · #

Cat eye syndrome

MIM #115470

Contiguous gene syndrome

Autosomal dominant
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools