SEMA7A

semaphorin 7A (John Milton Hagen blood group)
OMIM: 607961, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber SEMA7A in Cholestasis


Level 2: Gastroenterological disorders
Version 0.240

Component of the following Super Panels:

  • Liverome Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874

    Amber SEMA7A in Mendeliome


    Version 1.1891

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Decreased bone mineral density
    • Kallmann syndrome
    • Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874