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  2. Combined Immunodeficiency
  3. ERBIN
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Combined Immunodeficiency

Gene: ERBIN

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family and functional data.
Sources: Expert list
Created: 4 Apr 2020, 2:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Combined immunodeficiency, MONDO:0015131, ERBIN-related; Recurrent respiratory infections; Susceptibility to S.aureus; Eczema; Hyperextensible joints; Scoliosis; Arterial dilatation in some

Publications

Created: 4 Apr 2020, 2:48 a.m.

Panel version: 1.43

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Combined immunodeficiency, MONDO:0015131, ERBIN-related
  • 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

9 Oct 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ERBIN were changed from Recurrent respiratory infections; Susceptibility to S.aureus; Eczema; Hyperextensible joints; Scoliosis; Arterial dilatation in some to Combined immunodeficiency, MONDO:0015131, ERBIN-related; Recurrent respiratory infections; Susceptibility to S.aureus; Eczema; Hyperextensible joints; Scoliosis; Arterial dilatation in some

4 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ERBIN was added gene: ERBIN was added to Combined Immunodeficiency. Sources: Expert list 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 Recurrent respiratory infections; Susceptibility to S.aureus; Eczema; Hyperextensible joints; Scoliosis; Arterial dilatation in some Review for gene: ERBIN was set to AMBER