SHOC2

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

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green SHOC2 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.430	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 1.68	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 0.324	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 0.149	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SHOC2 in Mendeliome Version 1.2302	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 0.131	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SHOC2 in Rasopathy Level 2: Dysmorphic and congenital abnormality syndromes Version 0.105	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 1.63	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
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 0.196	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 1.76	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 1.313	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 BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Noonan-like syndrome with loose anagen hair