SEMA3A

semaphorin 3A
OMIM: 603961, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red SEMA3A in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.11

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Alder Hey - Erasmus MC
Phenotypes
  • susceptibility to Hirschsprung disease
Red SEMA3A in Hypogonadotropic hypogonadism

Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.42

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
  • Other
  • Expert list
  • OMIM
Phenotypes
  • Hypogonadotropic hypogonadism 16 with or without anosmia, 614897
Tags
  • monogenic-polygenic
Green SEMA3A in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Hypogonadotropic hypogonadism 16 with or without anosmia}, OMIM:614897
  • congenital heart disease
  • skeletal anomalies
Green SEMA3A in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SEMA3A-related skeletal dysplasia