Intellectual disability
Gene: ERBB4

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)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 2:22 p.m. | Last Modified: 14 Mar 2022, 2:22 p.m.

Panel Version: 3.1519

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

Created: 4 Mar 2021, 11:58 a.m.
Last Modified: 4 Mar 2021, 12:24 p.m.
Panel version: 3.1519

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

33603162

Created: 21 Feb 2021, 8:19 p.m.

Panel version: 3.963

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

Phenotypes

intellectual disability MONDO:0001071

OMIM

600543

Clinvar variants

Variants in ERBB4

Penetrance

Incomplete

Publications

Panels with this gene

History Filter Activity

14 Mar 2022, Gel status: 3

Removed Tag, Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating was removed from gene: ERBB4. Tag Q2_21_NHS_review was removed from gene: ERBB4.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to ERBB4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Mar 2021, Gel status: 2