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DDG2P

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 DDG2P confidence category, allelic requirement and molecular mechanism for ERBB3-related lethal congenital contracture syndrome are strong, biallelic_autosomal and undetermined (PMID:17701904). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01134. The DDG2P confidence category, allelic requirement and molecular mechanism for ERBB3-related Hirschprung disease with intestinal pseudo-obstruction are strong, biallelic_autosomal and undetermined (PMID:33497358). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02558.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease Hirschprung disease with intestinal pseudo-obstruction is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure. The DDG2P confidence category for the disease LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2, OMIM:607598 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and uncertain (PMID:17701904).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hirschprung disease with intestinal pseudo-obstruction; ERBB3-related Hirschprung disease with intestinal pseudo-obstruction; MONDO:0011868; MONDO:8000011; OMIM:243180.0; ERBB3-related lethal congenital contracture syndrome; OMIM:607598.0; LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2, OMIM:607598

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Multiple DD-Gene2Phenotype ratings (probable; possible). Kept rating as Amber to reflect highest DD-G2P Disease confidence: probable for Hirschprung disease with intestinal pseudo-obstruction.
Created: 28 Jan 2019, 2:29 p.m.
Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 19 Nov 2018, 1:47 p.m.
Multiple MOPs in DD-G2P download: all missense/in frame, uncertain. Multiple ratings in DD-G2P download: Rated possible for LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 607598 and rated probable for Hirschprung disease with intestinal pseudo-obstruction.
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.55

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Hirschprung disease with intestinal pseudo-obstruction
  • LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 607598
OMIM
190151
Clinvar variants
Variants in ERBB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: ERBB3 was changed from Other to None

6 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: ERBB3.

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to ERBB3. Mode of pathogenicity for gene ERBB3 was changed from Other - please provide details in the comments to Other Publications for gene: ERBB3 were updated from to 17701904 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Multiple MOPs in DD-G2P downl

19 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: ERBB3.

19 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Hirschprung disease with intestinal pseudo-obstruction for gene: ERBB3

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: ERBB3 was added gene: ERBB3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERBB3 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 607598 Mode of pathogenicity for gene: ERBB3 was set to Other - please provide details in the comments