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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: ERBIN

Amber List (moderate evidence)
ERBIN (erbb2 interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000112851
EnsemblGeneIds (GRCh37): ENSG00000112851
OMIM: 606944, Gene2Phenotype
ERBIN is in 2 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Susceptibility to S.aureus
  • Scoliosis
  • Eczema
  • Arterial dilatation in some
  • Recurrent respiratory infections
  • Hyperextensible joints
OMIM
606944
Clinvar variants
Variants in ERBIN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: ERBIN was added gene: ERBIN was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: ERBIN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ERBIN were set to 28126831 Phenotypes for gene: ERBIN were set to Susceptibility to S.aureus; Scoliosis; Eczema; Arterial dilatation in some; Recurrent respiratory infections; Hyperextensible joints