SEMA3E

semaphorin 3E
OMIM: 608166, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red SEMA3E in Choanal atresia Level 3: Choanal anomalies Level 2: Skeletal disorders Version 1.16	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 1.142	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 1.41	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 or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other 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 4.4 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Radboud University Medical Center, Nijmegen Expert list Phenotypes CHARGE syndrome 214800
Red SEMA3E in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.550 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Severe Intellectual Disability with Cognitive Regression
Red SEMA3E in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Phenotypes CHARGE, 214800
Amber SEMA3E in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Amber Expert list Phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724