SEMA3A

semaphorin 3A
OMIM: 603961, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red SEMA3A in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Level 2: Renal and urinary tract disorders Version 0.138 Component of the following Super Panels: Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Kidneyome_SuperPanel	review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services
Green SEMA3A in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897 congenital heart disease short stature
Green SEMA3A in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 0.293	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897
Green SEMA3A in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897 congenital heart disease short stature
Green SEMA3A in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SEMA3A in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897 congenital heart disease skeletal anomalies
Green SEMA3A in Primary Ovarian Insufficiency_Premature Ovarian Failure Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 0.328	review	Not set	Sources Expert Review Green Royal Melbourne Hospital
Red SEMA3A in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Kallmann syndrome 1
Green SEMA3A in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897 congenital heart disease skeletal anomalies
Red SEMA3A in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Kallmann syndrome 1