GATAD2B

Chr 1AD

GATA zinc finger domain containing 2B

Also known as: GANDS, MRD18, P66beta, p68

NCBI Gene: 57459 ENSG00000143614 UniProt: Q8WXI9 OMIM: 614998

This gene encodes a transcriptional repressor that functions as a component of the histone deacetylase NuRD complex, which remodels chromatin and represses gene expression. Mutations cause GAND syndrome, characterized by intellectual disability and dysmorphic features, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.097), indicating that even single functional copies are critical for normal development.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a zinc finger protein transcriptional repressor. The encoded protein is part of the methyl-CpG-binding protein-1 complex, which represses gene expression by deacetylating methylated nucleosomes. Mutations in this gene are linked to intellectual disability and dysmorphic features associated with cognitive disability. [provided by RefSeq, Jun 2016]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

GAND syndromeMIM #615074

Clinical highlights

Gene-disease validity (ClinGen)

severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome · 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)

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P/LP submissions

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P/LP missense

0.10

LOEUF· LoF intol.

LOF

Mechanism· G2P