HELLS

Chr 10

helicase, lymphoid specific

Also known as: ICF4, LSH, Nbla10143, PASG, SALNR, SMARCA6

NCBI Gene: 3070 ENSG00000119969 UniProt: Q9NRZ9

This gene encodes an ATP-dependent chromatin remodeler that regulates chromatin accessibility, DNA methylation, and histone modifications, and is involved in DNA repair and genomic stability. Mutations cause immunodeficiency-centromeric instability-facial anomalies syndrome 4, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants (pLI = 1.00, LOEUF = 0.24), indicating that complete loss of protein function is poorly tolerated.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImmunodeficiency-centromeric instability-facial anomalies syndrome 4

Clinical highlights

Gene-disease validity (ClinGen)

immunodeficiency-centromeric instability-facial anomalies syndrome 4 · ARModerateconsider for supplementary testing

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

0.24

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

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