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  3. GINS1
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Combined Immunodeficiency

Gene: GINS1

Green List (high evidence)
GINS1 (GINS complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000101003
EnsemblGeneIds (GRCh37): ENSG00000101003
OMIM: 610608, Gene2Phenotype
GINS1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

IUGR, natural killer (NK) cell deficiency, and chronic neutropenia;mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. At least 5 patients from four unrelated families reported.
Sources: Expert list
Created: 9 Jan 2020, 12:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 55, MIM#617827

Publications

Created: 9 Jan 2020, 12:44 a.m.

Panel version: 0.21

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 55, MIM#617827
OMIM
610608
Clinvar variants
Variants in GINS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gins1 has been classified as Green List (High Evidence).

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gins1 has been classified as Green List (High Evidence).

9 Jan 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: GINS1 was added gene: GINS1 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: GINS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GINS1 were set to 28414293 Phenotypes for gene: GINS1 were set to Immunodeficiency 55, MIM#617827 Review for gene: GINS1 was set to GREEN