PHF21A

Chr 11

PHD finger protein 21A

Also known as: BHC80, BM-006, IDDBCS, NEDMS

NCBI Gene: 51317 ENSG00000135365 UniProt: Q96BD5

The protein BHC80 functions as a component of a BRAF35/histone deacetylase complex that represses neuron-specific genes through the repressor element-1 (RE1) regulatory sequence. Loss-of-function mutations cause autosomal dominant intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures. The gene is highly intolerant to loss-of-function variants, indicating haploinsufficiency as the likely disease mechanism.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM, Nov 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · 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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.08

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)