Activity

Filter

Cancel
Date Panel Item Activity
17 actions
Intellectual disability - microarray and sequencing v3.1519 ERBB4 Ivone Leong Tag Q2_21_rating was removed from gene: ERBB4.
Tag Q2_21_NHS_review was removed from gene: ERBB4.
Intellectual disability - microarray and sequencing v3.1519 ERBB4 Sarah Leigh commented on gene: ERBB4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1519 ERBB4 Ivone Leong Source Expert Review Green was added to ERBB4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v3.975 ERBB4 Sarah Leigh Publications for gene: ERBB4 were set to 33603162; 23633123; 15219717; 30498032
Intellectual disability - microarray and sequencing v3.974 ERBB4 Sarah Leigh Tag Q2_21_rating tag was added to gene: ERBB4.
Intellectual disability - microarray and sequencing v3.974 ERBB4 Sarah Leigh Publications for gene: ERBB4 were set to 33603162; 23633123
Intellectual disability - microarray and sequencing v3.973 ERBB4 Sarah Leigh changed review comment from: 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 structural variants.; to: 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.
Intellectual disability - microarray and sequencing v3.973 ERBB4 Sarah Leigh edited their review of gene: ERBB4: Added comment: 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).; Changed rating: GREEN; Changed publications: 15219717, 30498032; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability - microarray and sequencing v3.973 ERBB4 Sarah Leigh Classified gene: ERBB4 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v3.973 ERBB4 Sarah Leigh Added comment: 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 structural variants.
Intellectual disability - microarray and sequencing v3.973 ERBB4 Sarah Leigh Gene: erbb4 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v3.972 ERBB4 Sarah Leigh Added comment: 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.
Intellectual disability - microarray and sequencing v3.972 ERBB4 Sarah Leigh Phenotypes for gene: ERBB4 were changed from intellectual disability; epilepsy to intellectual disability MONDO:0001071
Intellectual disability - microarray and sequencing v3.971 ERBB4 Sarah Leigh Publications for gene: ERBB4 were set to 33603162; 23633123
Intellectual disability - microarray and sequencing v3.971 ERBB4 Sarah Leigh Publications for gene: ERBB4 were set to 33603162
Intellectual disability - microarray and sequencing v3.963 ERBB4 Arina Puzriakova Tag Q2_21_NHS_review tag was added to gene: ERBB4.
Intellectual disability - microarray and sequencing v3.963 ERBB4 Julia Baptista 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
Added comment: 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