PHF20L1

Chr 8

PHD finger protein 20 like 1

Also known as: CGI-72, TDRD20B, URLC1

NCBI Gene: 51105 ENSG00000129292 UniProt: A8MW92 OMIM: 620050

The PHF20L1 protein binds methylated proteins and negatively regulates their proteasomal degradation, including key regulators like DNMT1 and SOX2. Mutations cause autosomal dominant intellectual disability with developmental delay, and the gene is highly constrained against loss-of-function variants (pLI ~1.0, LOEUF 0.187). This gene is associated with neurodevelopmental disorders affecting cognitive function and early development.

OMIM ResearchSummary from RefSeq, UniProt

Enables methylation-dependent protein binding activity. Involved in negative regulation of proteasomal ubiquitin-dependent protein catabolic process. Predicted to be located in nucleoplasm. Predicted to be part of NSL complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM 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)

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P/LP submissions

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P/LP missense

0.19

LOEUF· LoF intol.

LOF

Mechanism· predicted