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  2. Combined Immunodeficiency
  3. HELLS
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Combined Immunodeficiency

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)

Five individuals from four unrelated families.
Sources: Expert list
Created: 9 Jan 2020, 12:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM#616911

Publications

Created: 9 Jan 2020, 12:47 a.m.

Panel version: 0.23

Details

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

History Filter Activity

9 Jan 2020, 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).

9 Jan 2020, 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).

9 Jan 2020, 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 Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list 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 Review for gene: HELLS was set to GREEN