ERBB3

Green ERBB3 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0 (22 Mar 2023)

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 DDG2P

Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

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 1.477

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

Version 3.94
Latest signed off version: v3.24 (15 May 2023)

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

Version 1.5
Latest signed off version: v1.0 (22 Mar 2023)

Sources

• Expert Review Green
• Expert list

Phenotypes

• Visceral neuropathy, familial, 1, autosomal recessive, OMIM:243180