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Primary immunodeficiency or monogenic inflammatory bowel disease v9.71 GINS4 Achchuthan Shanmugasundram edited their review of gene: GINS4: Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v9.71 GINS4 Achchuthan Shanmugasundram Classified gene: GINS4 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v9.71 GINS4 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated families reported with biallelic GINS4 variants and with NK cell deficiency and neutropenia. This includes three unrelated patients with the same recurrent potentially founder variant (p.Val171Met) and two additional families reported with compound heterozygous variants (and one variant in both these families is p.Val171Leu). There is also extensive functional evidence available.

Hence, this gene can be promoted to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.71 GINS4 Achchuthan Shanmugasundram Gene: gins4 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v9.70 GINS4 Achchuthan Shanmugasundram Deleted their comment
Primary immunodeficiency or monogenic inflammatory bowel disease v9.70 GINS4 Achchuthan Shanmugasundram Tag Q3_26_promote_green tag was added to gene: GINS4.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.70 GINS4 Achchuthan Shanmugasundram Tag watchlist was removed from gene: GINS4.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.66 GINS4 Achchuthan Shanmugasundram Tag founder-effect tag was added to gene: GINS4.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.66 GINS4 Achchuthan Shanmugasundram Tag watchlist tag was added to gene: GINS4.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.66 GINS4 Achchuthan Shanmugasundram Classified gene: GINS4 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v9.66 GINS4 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated patients reported with the same recurrent potential founder variant (p.Val171Met) that is also found in homozygous state in one individual in gnomAD4.1.1. There are two additional families reported with compound heterozygous variants and one of these variants in both these cases are the same (p.Val171Leu).

Hence, this gene is rated amber with the current evidence. However, 'watchlist' tag has been added to review the gene with any new evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.66 GINS4 Achchuthan Shanmugasundram Gene: gins4 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v9.65 GINS4 Achchuthan Shanmugasundram Phenotypes for gene: GINS4 were changed from NK cell deficiency; neutropenia; viral infections to combined immunodeficiency, MONDO:0015131
Primary immunodeficiency or monogenic inflammatory bowel disease v9.64 GINS4 Achchuthan Shanmugasundram Publications for gene: GINS4 were set to 36345943
Primary immunodeficiency or monogenic inflammatory bowel disease v9.63 GINS4 Achchuthan Shanmugasundram reviewed gene: GINS4: Rating: AMBER; Mode of pathogenicity: None; Publications: 36345943, 40510848, 40768335; Phenotypes: combined immunodeficiency, MONDO:0015131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v9.9 GINS4 Boaz Palterer gene: GINS4 was added
gene: GINS4 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
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 NK cell deficiency; neutropenia; viral infections
Penetrance for gene: GINS4 were set to unknown
Review for gene: GINS4 was set to RED
Added comment: Conte et al. described a familial NKD case in which 2 siblings had a substantive NKD and neutropenia in the absence of other immune system abnormalities. Exome sequencing identified compound heterozygous variants in Go-Ichi-Ni-San (GINS) complex subunit 4 (GINS4, also known as SLD5), an essential component of the human replicative helicase, which we demonstrate to have a damaging impact upon the expression and assembly of the GINS complex.

Cells derived from affected individuals and a GINS4-knockdown cell line demonstrate delayed cell cycle progression, without signs of improper DNA synthesis or increased replication stress.
Sources: Literature