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Arthrogryposis
Gene: ERBB3

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families reported with contractures, positional approach used in gene discovery (2007). Another family reported more recently with a multi-system disorder but without contractures.
Created: 11 Jul 2020, 5:56 a.m. | Last Modified: 11 Jul 2020, 5:56 a.m.

Panel Version: 0.118

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal congenital contractural syndrome 2, MIM# 607598

Publications

Created: 11 Jul 2020, 5:56 a.m.
Last Modified: 11 Jul 2020, 5:56 a.m.
Panel version: 0.118

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Lethal congenital contractural syndrome 2, MIM# 607598

OMIM

Clinvar variants

Variants in ERBB3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

11 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Jul 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ERBB3 were changed from to Lethal congenital contractural syndrome 2, MIM# 607598

11 Jul 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ERBB3 were set to

11 Jul 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ERBB3 was added gene: ERBB3 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ERBB3 was set to Unknown