HELLS

helicase, lymphoid specific
OMIM: 603946, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green HELLS in COVID-19 research Level 2: Viral research Version 1.142	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 Literature London North GLH NHS GMS North West GLH Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Expert Review Green Literature 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
Green HELLS in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH IUIS Classification February 2018 Expert Review Green Literature Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome ICF Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911 ICF4 Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16 Combined immunodeficiencies with associated or syndromic features Tags early-onset
Green HELLS in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911