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Arthrogryposis

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 4 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as possible Gen2Phen gene for Lethal congenital contractural syndrome 2 OMIM:607598 and as a confirmed gene for Hirschprung disease with intestinal pseudo-obstruction. At least 7 variants reported in at least 4 unrelated cases.
Created: 28 Apr 2021, 1:57 p.m. | Last Modified: 28 Apr 2021, 1:57 p.m.
Panel Version: 3.98
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 28 Apr 2021, 1:54 p.m. | Last Modified: 28 Apr 2021, 1:54 p.m.
Panel Version: 3.98

Zornitza Stark (Australian Genomics)

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.

Report further substantiates association with arthrogryposis and expands the phenotype associated with bi-allelic variants in this gene. We have added to our Hirschsprung disease panel as well.
Created: 19 Apr 2021, 8:42 a.m. | Last Modified: 19 Apr 2021, 8:42 a.m.
Panel Version: 3.91

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hirschsprung disease; arthrogryposis

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: A single variant reported in two Israeli-Bedouin kindreds. Not currently enough evidence at this time to include this gene as green.
Created: 13 Jan 2017, 3:13 p.m.

Alice Gardham (Genomics England)

I don't know

Only identified in two families. Possible disease gene on G2P
Created: 21 Dec 2016, 3:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal congenital contractural syndrome 2 607598

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • 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 Q2_21_rating
OMIM
190151
Clinvar variants
Variants in ERBB3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Apr 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: ERBB3.

28 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

28 Apr 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ERBB3 were set to 17701904; 12519750

28 Apr 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ERBB3 were changed from Lethal congenital contractural syndrome 2 607598 to ?Lethal congenital contractural syndrome 2 OMIM:607598; lethal congenital contracture syndrome 2 MONDO:0011868

16 Jan 2017, Gel status: 2

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

13 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

13 Jan 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ERBB3 were set to 17701904; 12519750

13 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

13 Jan 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ERBB3 were set to 17701904

21 Dec 2016, Gel status: 2

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for ERBB3 were set to Lethal congenital contractural syndrome 2 607598

21 Dec 2016, Gel status: 2

Set Mode of Inheritance

Alice Gardham (Genomics England)

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

21 Dec 2016, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

21 Dec 2016, Gel status: 1

Upload gene information

Alice Gardham (Genomics England)

ERBB3 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ERBB3 was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ERBB3 was added to Arthrogryposispanel. Sources: Expert list