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Intellectual disability

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 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Not associated with relevant phenotype in OMIM or Gen2Phen. PMID 33603162 reports that at least six 2q34 deletions resulting in exon loss in ERBB4 may cause autosomal dominant mild to moderate developmental delay, ID or epilepsy. Rhodent knock out models support this finding (PMID 15219717;30498032).
Created: 4 Mar 2021, 12:23 p.m. | Last Modified: 4 Mar 2021, 12:23 p.m.
Panel Version: 3.973
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review depending on the interpretation of copy number variants.
Created: 4 Mar 2021, 12:08 p.m. | Last Modified: 4 Mar 2021, 12:24 p.m.
Panel Version: 3.973
Comment on phenotypes: Amyotrophic lateral sclerosis 19 615515 is not appropriate for this panel At present there is no precise ID phenotype associated with variants in this gene.
Created: 4 Mar 2021, 11:58 a.m. | Last Modified: 4 Mar 2021, 11:58 a.m.
Panel Version: 3.972

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

Publications

Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

Heterozygous intragenic multi-exonic ERBB4 deletions were identified in nine individuals from five unrelated families. Affected individuals had either non-syndromic ID or generalised epilepsy.
The deletion segregated with the phenotype in five affected individuals in one family, it was de novo in a second family and the inheritance was unknown in two families. In the fifth family, the deletion was inherited from a normal parent.
Sources: Literature
Created: 21 Feb 2021, 8:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
intellectual disability; epilepsy

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • intellectual disability MONDO:0001071
Tags
Q2_21_rating Q2_21_NHS_review
OMIM
600543
Clinvar variants
Variants in ERBB4
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

4 Mar 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ERBB4 were set to 33603162; 23633123; 15219717; 30498032

4 Mar 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: ERBB4.

4 Mar 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ERBB4 were set to 33603162; 23633123

4 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

4 Mar 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ERBB4 were changed from intellectual disability; epilepsy to intellectual disability MONDO:0001071

4 Mar 2021, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ERBB4 were set to 33603162; 23633123

4 Mar 2021, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ERBB4 were set to 33603162

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_NHS_review tag was added to gene: ERBB4.

21 Feb 2021, Gel status: 0

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

Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

gene: ERBB4 was added gene: ERBB4 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ERBB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ERBB4 were set to 33603162 Phenotypes for gene: ERBB4 were set to intellectual disability; epilepsy Penetrance for gene: ERBB4 were set to Incomplete Review for gene: ERBB4 was set to GREEN