ZSWIM6

Chr 5

zinc finger SWIM-type containing 6

Also known as: AFND, NEDMAGA

NCBI Gene: 57688 ENSG00000130449 UniProt: Q9HCJ5

The protein contains a zinc finger SWIM domain and is involved in nervous system development, particularly striatal morphology and motor regulation. Mutations cause acromelic frontonasal dysostosis and neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, inherited in an autosomal dominant pattern. This gene is highly constrained against loss-of-function variants, indicating critical importance for normal development.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene contains a zinc finger SWI2/SNF2 and MuDR (SWIM) domain. Proteins with SWIM domains have been found in a diverse number of species and are predicted to interact with DNA or proteins. Mutations in this gene result in acromelic frontonasal dysostosis. [provided by RefSeq, Apr 2017]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAcromelic frontonasal dysostosis

UniProtNeurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features

Clinical highlights

Gene-disease validity (ClinGen)

acromelic frontonasal dysostosis · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.07

LOEUF· LoF intol.

GOF*

Mechanism· G2P

Some data sources returned errors (1)

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