ZMYM2

Chr 13

zinc finger MYM-type containing 2

Also known as: FIM, MYM, NECRC, RAMP, SCLL, ZNF198

NCBI Gene: 7750 ENSG00000121741 UniProt: Q9UBW7

The encoded zinc finger protein functions as a transcriptional repressor and is part of a histone deacetylase complex involved in chromatin regulation. Mutations cause neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants (LOEUF 0.332), reflecting its critical role in normal development.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a zinc finger protein that may act as a transcription factor. The encoded protein may be part of a BHC histone deacetylase complex. Translocation of this gene with the fibroblast growth factor receptor-1 gene (FGFR1) results in a fusion gene, which may be a cause of stem cell leukemia lymphoma syndrome (SCLL). Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities

Clinical highlights

Gene-disease validity (ClinGen)

syndromic 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

0.33

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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