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  2. Chromosome Breakage Disorders
  3. HELLS
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Chromosome Breakage Disorders

Gene: HELLS

Green List (high evidence)
HELLS (helicase, lymphoid specific)
EnsemblGeneIds (GRCh38): ENSG00000119969
EnsemblGeneIds (GRCh37): ENSG00000119969
OMIM: 603946, Gene2Phenotype
HELLS is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable.

At least 4 unrelated families reported.
Sources: Expert Review
Created: 23 Apr 2021, 10:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911; MONDO:0014829

Publications

Created: 23 Apr 2021, 10:22 p.m.

Panel version: 0.169

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911
  • MONDO:0014829
OMIM
603946
Clinvar variants
Variants in HELLS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hells has been classified as Green List (High Evidence).

23 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hells has been classified as Green List (High Evidence).

23 Apr 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HELLS was added gene: HELLS was added to Chromosome Breakage Disorders. Sources: Expert Review Mode of inheritance for gene: HELLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HELLS were set to 26216346 Phenotypes for gene: HELLS were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911; MONDO:0014829 Review for gene: HELLS was set to GREEN