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Intellectual disability syndromic and non-syndromic

Gene: ERBB4

Amber List (moderate evidence)

ERBB4 (erb-b2 receptor tyrosine kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000178568
EnsemblGeneIds (GRCh37): ENSG00000178568
OMIM: 600543, Gene2Phenotype
ERBB4 is in 3 panels

2 reviews

Seb Lunke (Victorian Clinical Genetics Services)

Comment on list classification: CNVs only, not clear on the differentiation between ID and ALS.
Created: 4 Oct 2021, 5:02 a.m. | Last Modified: 4 Oct 2021, 5:02 a.m.
Panel Version: 0.4166

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

CNVs reported only
exonic deletions:
3x families with ID, speech delays, aggressive outbursts (including 1x de novo)
1x family with global dev delay inherited from unaffected parent

exonic del with limited clinical info:
1x severe expressive language delay
Sources: Literature
Created: 4 Oct 2021, 4:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
intellectual disability

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability
Tags
SV/CNV
OMIM
600543
Clinvar variants
Variants in ERBB4
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

4 Oct 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ERBB4 were changed from to Intellectual disability

4 Oct 2021, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: ERBB4.

4 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: erbb4 has been classified as Amber List (Moderate Evidence).

4 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: erbb4 has been classified as Amber List (Moderate Evidence).

4 Oct 2021, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: ERBB4 was added gene: ERBB4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: ERBB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ERBB4 were set to 33603162 Penetrance for gene: ERBB4 were set to unknown Review for gene: ERBB4 was set to GREEN