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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

2 reviews

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 607598
Tags
founder-effect
OMIM
190151
Clinvar variants
Variants in ERBB3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

Added New Source

Ellen McDonagh (Genomics England Curator)

ERBB3 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ERBB3 was created by ellenmcdonagh