PanelApp
  1. Genes and Genomic Entities
  2. SEMA3A

SEMA3A

semaphorin 3A
OMIM: 603961, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red SEMA3A in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.159

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel

    		•  2 reviews Unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services

    Green SEMA3A in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.474

    		1 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 1.24

    		1 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 1.3512

    		1 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 0.565

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green SEMA3A in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		2 reviews 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 0.388

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert List
    Phenotypes
    • Hypogonadotropic hypogonadism 16 with or without anosmia, MIM# 614897

    Red SEMA3A in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Kallmann syndrome 1

    Green SEMA3A in Fetal anomalies


    Version 1.465

    		1 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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Kallmann syndrome 1

    Green SEMA3A in Infertility and Recurrent Pregnancy Loss


    Version 1.50

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hypogonadotropic hypogonadism 16 with or without anosmia, MIM# 614897