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STRs in panel
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COVID-19 research

Gene: HELLS

Green List (high evidence)

HELLS (helicase, lymphoid specific)
EnsemblGeneIds (GRCh38): ENSG00000119969
EnsemblGeneIds (GRCh37): ENSG00000119969
OMIM: 603946, Gene2Phenotype
HELLS is in 3 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): HELLS .PanelApp HGNC gene symbol check: HELLS . IUIS Disease: Immunodeficiency with centromeric instability and facial anomalies, ICF4 . IUIS Inheritance: AR .T cells: Normal, .B cells: Decreased or normal, .IUIS Other affected cells: N/A. IUIS Associated features: Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: DNA Repair Defects other than those listed in Table 1
Created: 2 Jul 2018, 10:35 a.m.
added tag-early-onset
Created: 30 Apr 2018, 11:37 a.m.
Comment on list classification: Changed gene from status Amber to Green, there are more than three cases reported for immunodeficiency-centromeric instability-facial anomalies syndrome-4, all had immunoglobulin deficiency.
Created: 26 Apr 2018, 2:06 p.m.
Comment on publications: added publications to support animal model - knockdown of the HELLS gene in mouse embryonic fibroblasts resulted in decreased CpG methylation at centromeric repeats, similar to that observed in patient cells.
Created: 26 Apr 2018, 1:57 p.m.
From OMIM: PMID: 262163465 described patients from 4 unrelated families with immunodeficiency-centromeric instability-facial anomalies syndrome-4 , they identified 6 homozygous or compound heterozygous mutations in the HELLS gene. The mutations, which were found by a combination of homozygosity mapping and whole-exome sequencing, segregated with the disorder in the families. Only 1 of the mutations was a missense mutation. Functional studies of the variants were not performed, but knockdown of the HELLS gene in mouse embryonic fibroblasts resulted in decreased CpG methylation at centromeric repeats, similar to that observed in patient cells (PMID:11711429, 14517253,17726103, 16395332)
Created: 26 Apr 2018, 1:56 p.m.
From Orphanet: disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes. Variable symptoms of this probably under-diagnosed syndrome include mild facial dysmorphism, growth retardation, failure to thrive, and psychomotor retardation. Serum levels of IgG, IgM, IgE, and/or IgA are low, although the type of immunoglobulin deficiency is variable. Recurrent infections are the presenting symptom, usually in early childhood.
Created: 26 Apr 2018, 1:51 p.m.
Comment on mode of inheritance: MOI from review of literature and OMIM
Created: 26 Apr 2018, 1:23 p.m.
Comment on phenotypes: added phenotype and MIMid from OMIM
Created: 26 Apr 2018, 1:22 p.m.
Added from clinical team recommendation (Rachel Jones) after a literature review, to be curated thoroughly during panel review.
Created: 10 Apr 2018, 8:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency-centromeric instability-facial anomalies syndrome; ICF

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • ICF
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911
  • ICF4
  • Combined immunodeficiencies with associated or syndromic features
  • Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
  • Immunodeficiency-centromeric instability-facial anomalies syndrome
OMIM
603946
Clinvar variants
Variants in HELLS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: HELLS was added gene: HELLS was added to Viral susceptibility. Sources: Expert Review Green,North West GLH,NHS GMS,London North GLH,Literature,IUIS Classification February 2018 Mode of inheritance for gene: HELLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HELLS were set to 28128455; 27328760; 17726103; 29339483; 11711429; 26216346; 14517253; 16395332 Phenotypes for gene: HELLS were set to ICF; Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911; ICF4; Combined immunodeficiencies with associated or syndromic features; Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16; Immunodeficiency-centromeric instability-facial anomalies syndrome