PanelApp (test)
  1. Genes and Genomic Entities
  2. SHOC2:Ensemblv90

SHOC2:Ensemblv90

SHOC2, leucine rich repeat scaffold protein
OMIM: 602775, ClinGen, DECIPHER

23 panels

Panel Reviews Mode of inheritance Details
23 panels

Green SHOC2 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.511

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome-like with loose anagen hair 1, MIM# 607721

Amber SHOC2 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.73

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Noonan syndrome with loose anagen hair

Green SHOC2 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.328

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome-like with loose anagen hair 1, MIM: #607721

Green SHOC2 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.153

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

Green SHOC2 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome-like with loose anagen hair 1, MIM# 607721

Green SHOC2 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.132

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

Green SHOC2 in Rasopathy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.111

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome-like with loose anagen hair 1, MIM# 607721

Green SHOC2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Noonan syndrome-like with loose anagen hair 1, MIM# 607721

Red SHOC2 in TCGA_PANCAN_2018


Version 0.3

0 reviews Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Noonan syndrome-like disorder with loose anagen hair 1

Green SHOC2 in Lymphoedema_syndromic

Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 0.12

Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Noonan-like syndrome with loose anagen hair 607721

    Green SHOC2 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.208

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • NHS GMS
    • Expert Review Green
    • Expert List
    • London South GLH
    Phenotypes
    • Noonan-like syndrome with loose anagen hair
    • syndromic HCM

    Red SHOC2 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
    • Noonan-like syndrome with loose anagen hair

    Green SHOC2 in Growth failure


    Version 1.87

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Noonan syndrome-like with loose anagen hair 1, MIM# 607721

    Green SHOC2 in Fetal anomalies


    Version 1.482

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Noonan syndrome-like with loose anagen hair 1, MIM# 607721

    Red SHOC2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Noonan-like syndrome with loose anagen hair

    Green SHOC2 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 1.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Noonan syndrome-like with loose anagen hair 1, MIM# 607721

    Green SHOC2 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Noonan syndrome-like with loose anagen hair 1, MIM: #607721

    Green SHOC2 in Macrocephaly_Megalencephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

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

    Green SHOC2 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 1.0

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

    Green SHOC2 in Rasopathy


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Noonan syndrome-like with loose anagen hair 1, MIM# 607721

    Green SHOC2 in Lymphoedema_syndromic

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 1.0

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review
    • Expert Review Green
    Phenotypes
    • Noonan-like syndrome with loose anagen hair 607721

    Green SHOC2 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 1.0

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London South GLH
    • Expert List
    • Expert Review Green
    • NHS GMS
    • South West GLH
    Phenotypes
    • Noonan-like syndrome with loose anagen hair
    • syndromic HCM

    Green SHOC2 in Growth failure


    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Genomics England PanelApp
    • Expert Review Green
    Phenotypes
    • Noonan syndrome-like with loose anagen hair 1, MIM# 607721