CHAMP1

Chr 13

chromosome alignment maintaining phosphoprotein 1

Also known as: C13orf8, CAMP, CHAMP, MRD40, NEDHILD, ZNF828

NCBI Gene: 283489 ENSG00000198824 UniProt: Q96JM3

CHAMP1 encodes a zinc finger protein required for proper chromosome alignment at metaphase and accurate chromosome segregation during mitosis by maintaining spindle microtubule attachment to kinetochores. Mutations cause autosomal dominant neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features. This represents an autosomal dominant intellectual disability syndrome with early childhood onset affecting neurological development and growth.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a zinc finger protein that functions as a regulator of chromosome segregation in mitosis. The encoded protein is required for correct alignment of chromosomes on the metaphase plate, and plays a role in maintaining the attachment of sister kinetochores to microtubules from opposite spindle poles. Mutations in this gene are associated with an autosomal dominant form of intellectual disability. [provided by RefSeq, Jul 2017]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.27

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429