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NEDHELS
Chr 11ARDEAF1 transcription factor
Also known as: MRD24, NEDHELS, NUDR, SPN, VSVS, ZMYND5
This zinc finger transcription factor regulates its own promoter and target genes important for embryonic development. Mutations cause a neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, inherited in an autosomal recessive pattern. Note that while RefSeq mentions autosomal dominant cognitive disability, the established OMIM phenotype follows autosomal recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDHELS?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NEDHELS · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools