SEMA3E

semaphorin 3E
OMIM: 608166, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red SEMA3E in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 1.27	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes ?CHARGE syndrome (MIM#214800)
Amber SEMA3E in Mendeliome Version 1.3795	2 reviews	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 1.138 Component of the following Super Panels: Immunological disorders_SuperPanel	1 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 1.497	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Phenotypes CHARGE syndrome, MIM#214800
Red SEMA3E in Pituitary hormone deficiency Level 3: Pituitary disorders Level 2: Endocrine disorders Version 0.166	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Expert Review Expert Review Phenotypes ?CHARGE syndrome (MIM#214800)
Red SEMA3E in Choanal atresia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.6	1 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 1.481	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes CHARGE syndrome - MIM#214800
Red SEMA3E in Hypogonadotropic hypogonadism Level 3: Pituitary disorders Level 2: Endocrine disorders Version 0.74	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Expert Review Phenotypes ?CHARGE syndrome (MIM#214800)