1. Panels
  2. Prepair 1000+
  3. ERBB3
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: ERBB3

Amber List (moderate evidence)
ERBB3 (erb-b2 receptor tyrosine kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000065361
EnsemblGeneIds (GRCh37): ENSG00000065361
OMIM: 190151, Gene2Phenotype
ERBB3 is in 10 panels

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: Upgrade to green
Created: 6 Sep 2024, 10:06 a.m. | Last Modified: 6 Sep 2024, 10:06 a.m.
Panel Version: 1.281
Created: 6 Sep 2024, 10:06 a.m.
Last Modified: 6 Sep 2024, 10:06 a.m.
Panel version: 1.281

Andrew Coventry (Victorian Clinical Genetics Services)

I don't know

VSCN1 - developmental anomalies: associating neural crest and extra-neural crest features, including intestinal dysmotility due to aganglionosis (Hirschsprung disease), hypoganglionosis, and/or chronic intestinal pseudoobstruction. Some patients develop progressive peripheral neuropathy, and arthrogryposis has been observed. Hypoplasia or aplasia of the olfactory bulb and of the external auditory canals, as well as microtia or anotia, have been reported. Patients also exhibit facial dysmorphisms, including microretrognathia in most; other variable features include structural cardiac anomalies and arthrogryposis with multiple pterygia. 6 individuals from 4 unrelated families reported with severe gut dysmotility and other features of neurocristinopathy(PMID 33497358). Can be severe with onset early in life.

Lethal congenital contractual syndrome: Two families reported with contractures, positional approach used in gene discovery (2007). Another family reported more recently with a multi-system disorder but without contractures. Characterized by severe multiple congenital contractures with muscle wasting and atrophy. Micrognathia and other craniofacial anomalies, including cleft palate, as well as cardiac defects and enlarged urinary bladder at birth have also been reported.

Recent study suggests two phenotypes may be spectrum of same condition: 'complex syndrome involving multiple systems with phenotypic variability among distinct individuals'. Also report zebrafish model replicates features of both phenotypes (PMID: 38009810).
Created: 2 Sep 2024, 5:38 a.m. | Last Modified: 2 Sep 2024, 5:38 a.m.
Panel Version: 1.248

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Visceral neuropathy, familial, 1, autosomal recessive MIM#243180; Lethal congenital contractural syndrome 2 MIM#607598

Publications

Created: 2 Sep 2024, 5:38 a.m.
Last Modified: 2 Sep 2024, 5:38 a.m.
Panel version: 1.248

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Visceral neuropathy, familial, 1, autosomal recessive MIM#243180
Tags
for review
OMIM
190151
Clinvar variants
Variants in ERBB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Sep 2024, Gel status: 2

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: erbb3 has been classified as Amber List (Moderate Evidence).

6 Sep 2024, Gel status: 2

Added Tag

Lilian Downie (Victorian Clinical Genetics Services)

Tag for review tag was added to gene: ERBB3.

6 Sep 2024, Gel status: 2

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: ERBB3 were changed from Lethal congenital contractural syndrome 2, 607598 (3) to Visceral neuropathy, familial, 1, autosomal recessive MIM#243180

6 Sep 2024, Gel status: 2

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: ERBB3 were set to

1 Jun 2022, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ERBB3 was added gene: ERBB3 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, 607598 (3)