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Newborns main panel

Gene: HELLS

Green List (high evidence)
HELLS (helicase, lymphoid specific)
EnsemblGeneIds (GRCh38): ENSG00000119969
EnsemblGeneIds (GRCh37): ENSG00000119969
OMIM: 603946, Gene2Phenotype
HELLS is in 2 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
clinical validity 4 families PMID: 26216346 1 family PMID: 30511102 (1 additional unpublished family at St George's)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

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

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 4 for gene: HELLS

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to HELLS. Added phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 4 for gene: HELLS Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to HELLS. Added phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 4 for gene: HELLS Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to HELLS. Added phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 4 for gene: HELLS Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to HELLS. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 4 for gene: HELLS

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: HELLS was added gene: HELLS was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: HELLS was set to BIALLELIC, autosomal or pseudoautosomal