SEMA3E

semaphorin 3E
OMIM: 608166, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red SEMA3E in Choanal atresia

Level 3: Choanal anomalies
Level 2: Skeletal disorders
Version 1.13

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • CHARGE syndrome, 214800

Green SEMA3E in COVID-19 research


Level 2: Viral research
Version 1.58

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • CHARGE syndrome
  • immune-mediated cerebellar ataxia
  • Coloboma, heart anomaly, choanal atresia, intellectual retardation, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs
  • Charge syndrome 214800
  • Combined immunodeficiencies with associated or syndromic features

Red SEMA3E in Hypogonadotropic hypogonadism

Level 3: Hypothalamic and pituitary disorders
Level 2: Endocrine disorders
Version 1.28

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • CHARGE syndrome, 214800

Red SEMA3E in Primary immunodeficiency


Version 2.175
Signed off v.2.1 on 24 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • CHARGE syndrome
  • immune-mediated cerebellar ataxia
  • Coloboma, heart anomaly, choanal atresia, intellectual retardation, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs
  • Charge syndrome 214800
  • Combined immunodeficiencies with associated or syndromic features

Red SEMA3E in Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 2.4
Signed off v.2.2 on 3 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • CHARGE syndrome 214800

Red SEMA3E in Structural eye disease


Version 1.9
Signed off v.1.3 on 4 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • CHARGE, 214800

Amber SEMA3E in Severe Paediatric Disorders


Version 1.6

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Leukoencephalopathy with dystonia and motor neuropathy, 613724

Green SEMA3E in Immunological disorders_SuperPanel_PanelAppAustralia


Level 2: Immunological disorders
Version 0.3

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship