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COVID-19 research

Gene: ERBIN

Green List (high evidence)

ERBIN (erbb2 interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000112851
EnsemblGeneIds (GRCh37): ENSG00000112851
OMIM: 606944, Gene2Phenotype
ERBIN is in 4 panels

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

IUIS gene
Created: 27 Apr 2020, 2:33 p.m. | Last Modified: 27 Apr 2020, 2:33 p.m.
Panel Version: 0.163

Louise Daugherty (Genomics England Curator)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
Approved HGNC gene symbol for ERBB2IP is ERBIN. ERBB2IP submitted via IUIS December 2019 update
Created: 28 Feb 2020, 12:33 p.m. | Last Modified: 28 Feb 2020, 12:33 p.m.
Panel Version: 2.11

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • ERBIN deficiency
  • Combined immunodeficiencies with associated or syndromic features
  • Recurrent respiratory infections, susceptibility to S. aureus, eczema, hyperextensible joints, scoliosis, arterial dilatation in some
OMIM
606944
Clinvar variants
Variants in ERBIN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to ERBIN. Added phenotypes ERBIN deficiency; Combined immunodeficiencies with associated or syndromic features; Recurrent respiratory infections, susceptibility to S. aureus, eczema, hyperextensible joints, scoliosis, arterial dilatation in some for gene: ERBIN Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: ERBIN was added gene: ERBIN was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: ERBIN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ERBIN were set to 28126831; 32086639; 32048120 Phenotypes for gene: ERBIN were set to ERBIN deficiency; Combined immunodeficiencies with associated or syndromic features; Recurrent respiratory infections, susceptibility to S. aureus, eczema, hyperextensible joints, scoliosis, arterial dilatation in some