ERBB2

erb-b2 receptor tyrosine kinase 2
OMIM: 164870, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red ERBB2 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.0 Component of the following Super Panels: Neuromuscular Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Visceral neuropathy, familial, 2, autosomal recessive, MIM # 619465, Complex neurocristinopathy
Amber ERBB2 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Congenital heart disease - left ventricular outflow tract obstruction defects MONDO:0005453
Red ERBB2 in Hirschsprung disease Level 2: Gastroenterological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Visceral neuropathy, familial, 2, autosomal recessive, MIM # 619465, Complex neurocristinopathy
Amber ERBB2 in Mendeliome Version 2.50	5 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital heart disease - left ventricular outflow tract obstruction defects MONDO:0005453 Hirschsprung disease (HSCR, aganglionic megacolon, MIM#142623)
Red ERBB2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.1	1 review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services
Red ERBB2 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Visceral neuropathy, familial, 2, autosomal recessive, MIM # 619465, Complex neurocristinopathy
Red ERBB2 in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Visceral neuropathy, familial, 2, autosomal recessive, MIM # 619465, Complex neurocristinopathy
Red ERBB2 in Gastrointestinal neuromuscular disease Level 2: Gastroenterological disorders Version 2.0 Component of the following Super Panels: Neuromuscular Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Visceral neuropathy, familial, 2, autosomal recessive, MIM # 619465, Complex neurocristinopathy
Amber ERBB2 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Phenotypes Congenital heart disease - left ventricular outflow tract obstruction defects MONDO:0005453 Hirschsprung disease (HSCR, aganglionic megacolon, MIM#142623)
Amber ERBB2 in Growth failure Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Phenotypes Congenital heart disease - left ventricular outflow tract obstruction defects MONDO:0005453 Hirschsprung disease (HSCR, aganglionic megacolon, MIM#142623)