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  3. GINS4
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Combined Immunodeficiency

Gene: GINS4

Red List (low evidence)
GINS4 (GINS complex subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000147536
EnsemblGeneIds (GRCh37): ENSG00000147536
OMIM: 610611, Gene2Phenotype
GINS4 is in 1 panel

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

2 affected siblings with compound het variants are reported in a single family.
Sources: Expert list
Created: 10 Nov 2024, 5:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
combined immunodeficiency MONDO:0015131

Publications

Created: 10 Nov 2024, 5:03 a.m.

Panel version: 1.92

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • combined immunodeficiency MONDO:0015131
OMIM
610611
Clinvar variants
Variants in GINS4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gins4 has been classified as Red List (Low Evidence).

10 Nov 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GINS4 was added gene: GINS4 was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: GINS4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GINS4 were set to 36345943 Phenotypes for gene: GINS4 were set to combined immunodeficiency MONDO:0015131 Review for gene: GINS4 was set to RED