FRMPD4

Chr XX-linked

FERM and PDZ domain containing 4

Also known as: MRX104, PDZD10, PDZK10, Preso1, XLID104

NCBI Gene: 9758 ENSG00000169933 UniProt: Q14CM0 OMIM: 300838

FRMPD4 encodes a multi-domain protein that positively regulates dendritic spine morphogenesis and density and is required for maintaining excitatory synaptic transmission. Mutations cause X-linked intellectual developmental disorder 104. This gene is extremely intolerant to loss-of-function variants, indicating it is highly constrained and critical for normal neuronal function.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission. [provided by RefSeq, Jan 2010]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder, X-linked 104MIM #300983

X-linked

Clinical highlights

Gene-disease validity (ClinGen)

X-linked complex neurodevelopmental disorder · XLDefinitivesufficient 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

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P/LP missense

0.08

LOEUF· LoF intol.

LOF

Mechanism· G2P