PanelApp (staging)
  1. Genes and Genomic Entities
  2. HELLS

HELLS

helicase, lymphoid specific
OMIM: 603946, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green HELLS in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.21

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911
  • MONDO:0014829

Green HELLS in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911
  • MONDO:0014829

Green HELLS in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM#616911

    Green HELLS in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911
    Tags
    • treatable
    • immunological