ERBB3

erb-b2 receptor tyrosine kinase 3
OMIM: 190151, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Amber ERBB3 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.416	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Lethal congenital contractural syndrome 2, MIM# 607598
Green ERBB3 in Hirschsprung disease Level 2: Gastroenterological disorders Version 0.25	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180 Complex neurocristinopathy
Green ERBB3 in Mendeliome Version 1.2302	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lethal congenital contractural syndrome 2, MIM# 607598 Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180 Hirschsprung disease Arthrogryposis Complex neurocristinopathy
Amber ERBB3 in Multiple pterygium syndrome_Fetal akinesia sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 1.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Lethal congenital contractural syndrome 2, MIM# 607598
Green ERBB3 in Gastrointestinal neuromuscular disease Level 2: Gastroenterological disorders Version 1.24 Component of the following Super Panels: Neuromuscular Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180 Complex neurocristinopathy
Amber ERBB3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes Lethal congenital contractural syndrome 2, 607598 (3)
Red ERBB3 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Lethal congenital contractural syndrome 2
Green ERBB3 in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lethal congenital contractural syndrome 2, MIM# 607598 Hirschsprung disease (HSCR, aganglionic megacolon) MIM#142623
Amber ERBB3 in Prepair 1000+ Level 2: Screening Version 1.1566	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes Visceral neuropathy, familial, 1, autosomal recessive MIM#243180 Tags for review
Red ERBB3 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Lethal congenital contractural syndrome 2