PanelApp
  1. Genes and Genomic Entities
  2. HEPHL1

HEPHL1

hephaestin like 1
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red HEPHL1 in Mendeliome


Version 1.2511

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Abnormal hair, joint laxity, and developmental delay (MIM#261990)

Red HEPHL1 in Hair disorders


Level 2: Dermatological disorders
Version 0.73

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Abnormal hair, joint laxity, and developmental delay (MIM#261990)

Red HEPHL1 in Metal Metabolism Disorders


Level 2: Metabolic disorders
Version 0.48

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • ClinGen
    Phenotypes
    • pili torti-developmental delay-neurological abnormalities syndrome MONDO:0009871