SEMA3E

semaphorin 3E
OMIM: 608166, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red SEMA3E in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • ?CHARGE syndrome (MIM#214800)

Amber SEMA3E in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • CHARGE syndrome, MIM#214800

Red SEMA3E in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.66

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • CHARGE syndrome, MIM# 214800

    Amber SEMA3E in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Genetic Health Queensland
    Phenotypes
    • CHARGE syndrome, MIM#214800

    Red SEMA3E in Choanal atresia


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.5

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • CHARGE syndrome, MIM# 214800
    • MONDO:0008965

    Amber SEMA3E in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • CHARGE syndrome - MIM#214800