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Primary immunodeficiency

Gene: ERBIN

Amber List (moderate evidence)

ERBIN (erbb2 interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000112851
EnsemblGeneIds (GRCh37): ENSG00000112851
OMIM: 606944, Gene2Phenotype
ERBIN is in 3 panels

3 reviews

Catherine Snow (Genomics England)

Comment on list classification: Promoted from Red to Amber based on expert review. Only one family identified and functional studies so will remain Amber.
Created: 28 Apr 2020, 7:07 a.m. | Last Modified: 28 Apr 2020, 7:07 a.m.
Panel Version: 2.129

Zornitza Stark (Australian Genomics)

I don't know

Single family and functional data.
Created: 10 Apr 2020, 6:37 a.m. | Last Modified: 10 Apr 2020, 6:37 a.m.
Panel Version: 2.51

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Recurrent respiratory infections; Susceptibility to S.aureus; Eczema; Hyperextensible joints; Scoliosis; Arterial dilatation in some

Publications

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
  • Expert Review Amber
  • IUIS Classification December 2019
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
Tags
new-gene-name
OMIM
606944
Clinvar variants
Variants in ERBIN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ERBIN were updated from 32086639; 32048120 to 28126831; 32086639; 32048120

28 Feb 2020, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: ERBIN.

26 Feb 2020, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: ERBIN was added gene: ERBIN was added to Primary immunodeficiency. 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 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