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Hirschsprung disease

Gene: ERBB3

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Correct PMID for this study.
Created: 31 Jul 2021, 1:29 a.m. | Last Modified: 31 Jul 2021, 1:29 a.m.
Panel Version: 0.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy

Publications

Created: 31 Jul 2021, 1:29 a.m.
Last Modified: 31 Jul 2021, 1:29 a.m.
Panel version: 0.17

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Seven variants (missense and frameshfit) from four independent families with Hirschsprung disease (HSCR) reported.

All reported individuals variably associated with conditions such as HSCR, chronic intestinal pseudo-obstruction, peripheral neuropathy, and arthrogryposis.

Functional study revealed mutant proteins reduced protein expression or altered phosphorylation of the mutant receptors.
Sources: Literature
Created: 12 Apr 2021, 5:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hirschsprung disease (HSCR) aganglionic megacolon, MIM#142623

Publications

Created: 12 Apr 2021, 5:48 a.m.

Panel version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180
  • Complex neurocristinopathy
OMIM
190151
Clinvar variants
Variants in ERBB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ERBB3 were changed from Complex neurocristinopathy to Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy

31 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ERBB3 were changed from Hirschsprung disease; Arthrogryposis to Complex neurocristinopathy

31 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ERBB3 were set to 33720042

14 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ERBB3 were changed from Hirschsprung disease (HSCR) aganglionic megacolon, MIM#142623 to Hirschsprung disease; Arthrogryposis

12 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: erbb3 has been classified as Green List (High Evidence).

12 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: erbb3 has been classified as Green List (High Evidence).

12 Apr 2021, Gel status: 0

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

Teresa Zhao (Victorian Clinical Genetics Services)

gene: ERBB3 was added gene: ERBB3 was added to Hirschsprung disease. Sources: Literature Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERBB3 were set to 33720042 Phenotypes for gene: ERBB3 were set to Hirschsprung disease (HSCR) aganglionic megacolon, MIM#142623 Review for gene: ERBB3 was set to GREEN