1. Panels
  2. Paediatric pseudo-obstruction syndrome
  3. ERBB3
STRs in panel
Prev Next
Regions in panel
Prev Next

Paediatric pseudo-obstruction syndrome

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 6 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Comment on classification of this gene: The rating should be GREEN as this gene has been implicated in visceral neuropathy from six affected individuals from four unrelated families.

These individuals harboured biallelic variants: c.2359A>C/ c.2695G>A, c.3297delG, c.2618C>G/ c.2795A>G & c.556delT/ c.2269dupA. Five out of six of these individuals (except one of the two from family 3 - harbouring variants c.2618C>G/ c.2795A>G) were reported with Hirschsprung disease (HSCR), individual from family 1 had hypoganglionosis, intestinal smooth muscle abnormalities, chronic intestinal pseudo-obstruction and peripheral neuropathy, and individuals from families 3 and 4 had Arthrogryposis.

This gene-disease association was also reported in both OMIM and Gene2Phenotype.
Created: 20 Dec 2022, 9:12 p.m. | Last Modified: 20 Dec 2022, 9:12 p.m.
Panel Version: 0.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 20 Dec 2022, 9:12 p.m.
Last Modified: 20 Dec 2022, 9:12 p.m.
Panel version: 0.216

Eleanor Williams (Genomics England Curator)

Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Genes involved in Hirschsprung disease (HSCR) in humans and models of megacolon. Protein function: essential role in the regulation of cell proliferation, survival, and differentiation; activation of various signaling cascades including phosphatidylinositol 3-kinase (PI3K)/AKT and extracellular signal-regulated kinase (ERK) signaling.
Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2

Mode of inheritance
Unknown

Phenotypes
Aganglionosis, hypoganglionosis, and intestinal smooth muscle abnormalities

Publications

Created: 20 Dec 2022, 3:32 p.m.
Last Modified: 20 Dec 2022, 3:32 p.m.
Panel version: 0.2

Details

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

History Filter Activity

20 Dec 2022, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: ERBB3 were set to

20 Dec 2022, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ERBB3 were changed from to Visceral neuropathy, familial, 1, autosomal recessive, OMIM:243180

20 Dec 2022, Gel status: 3

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene: ERBB3 was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

20 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: ERBB3 was added gene: ERBB3 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: ERBB3 was set to