FAM50B

Chr 6

family with sequence similarity 50 member B

Also known as: D6S2654E, X5L

NCBI Gene: 26240 ENSG00000145945 UniProt: Q9Y247

FAM50B encodes a protein related to circadian clock regulation and is paternally expressed due to genomic imprinting. Mutations cause neurodevelopmental disorders with intellectual disability and developmental delay. The gene follows autosomal dominant inheritance with paternal expression due to imprinting.

ResearchSummary from RefSeq

This gene contains an intronless ORF that arose from ancestral retroposition. The encoded protein is related to a plant protein that plays a role in the circadian clock. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and paternally expressed in many tissues. [provided by RefSeq, Nov 2015]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.76

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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