ERBB3

erb-b2 receptor tyrosine kinase 3
OMIM: 190151, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green ERBB3 in Arthrogryposis Level 2: Neurology Version 10.5 Latest signed off version: v10.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list Phenotypes ?Lethal congenital contractural syndrome 2 OMIM:607598 lethal congenital contracture syndrome 2 MONDO:0011868 Tags founder-effect
Green ERBB3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 7.7 Latest signed off version: v7.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Lethal congenital contractural syndrome 2, OMIM:607598
Green ERBB3 in DDG2P Version 7.1 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Hirschprung disease with intestinal pseudo-obstruction LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 607598
Red ERBB3 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.508	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Phenotypes Lethal congenital contractural syndrome 2, 607598 Multiple joint contractures, anterior horn atrophy, death in neonatal period, distended urinary bladder
Red ERBB3 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 8.1 Latest signed off version: v8.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS NHS GMS London North GLH Phenotypes Lethal congenital contractural syndrome 2, 607598 Multiple joint contractures, anterior horn atrophy, death in neonatal period, distended urinary bladder
Green ERBB3 in Paediatric pseudo-obstruction syndrome Level 2: Gastrohepatology Version 2.6 Latest signed off version: v2.5 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Visceral neuropathy, familial, 1, autosomal recessive, OMIM:243180