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  3. ERBB3
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Gastrointestinal neuromuscular disease

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 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

6 individuals from 4 unrelated families reported with severe gut dysmotility and other features of neurocristinopathy including short-segment HSCR, progressive axonal peripheral neuropathy, dysautonomia, hypopigmentation, deafness. Note variants in this gene have also recently been linked to Hirschsprung's disease.
Sources: Literature
Created: 31 Jul 2021, 1:16 a.m. | Last Modified: 31 Jul 2021, 1:23 a.m.
Panel Version: 0.68

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy

Publications

Created: 31 Jul 2021, 1:16 a.m.
Last Modified: 31 Jul 2021, 1:23 a.m.
Panel version: 1.14

Details

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

History Filter Activity

3 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ERBB3 were changed from Complex neurocristinopathy to Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180; Complex neurocristinopathy

31 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ERBB3 were changed from Neurodevelopmental disorder with gut dysmotility to Complex neurocristinopathy

31 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ERBB3 was added gene: ERBB3 was added to Gastrointestinal neuromuscular disease. Sources: Literature Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERBB3 were set to 33497358 Phenotypes for gene: ERBB3 were set to Neurodevelopmental disorder with gut dysmotility Review for gene: ERBB3 was set to GREEN