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Renal ciliopathies v3.18 GLIS2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GLIS2.
Renal ciliopathies v3.18 GLIS2 Achchuthan Shanmugasundram commented on gene: GLIS2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Renal ciliopathies v3.16 GLIS2 Achchuthan Shanmugasundram Source NHS GMS was added to GLIS2.
Source Expert Review Green was added to GLIS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Renal ciliopathies v3.8 GLIS2 Achchuthan Shanmugasundram Deleted their comment
Renal ciliopathies v3.8 GLIS2 Achchuthan Shanmugasundram Classified gene: GLIS2 as Amber List (moderate evidence)
Renal ciliopathies v3.8 GLIS2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases reported with biallelic GLIS2 variants and with nephronophthisis (MIM #611498). There is also functional evidence and mouse model available in support of the disease association. Hence, this gene can be promoted to green rating in the next GMS update.
Renal ciliopathies v3.8 GLIS2 Achchuthan Shanmugasundram Gene: glis2 has been classified as Amber List (Moderate Evidence).
Renal ciliopathies v3.8 GLIS2 Achchuthan Shanmugasundram Classified gene: GLIS2 as Amber List (moderate evidence)
Renal ciliopathies v3.8 GLIS2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases reported with biallelic GLIS2 variants and with nephronophthisis (MIM #611498). There is also functional evidence and mouse model available in support of the disease association. Hence, this gene can be promoted to green rating in the next GMS update.
Renal ciliopathies v3.8 GLIS2 Achchuthan Shanmugasundram Gene: glis2 has been classified as Amber List (Moderate Evidence).
Renal ciliopathies v3.7 GLIS2 Achchuthan Shanmugasundram Phenotypes for gene: GLIS2 were changed from Nephronophthisis; NPHP; Nephronophthisis 7, 611498 to Nephronophthisis 7, OMIM:611498
Renal ciliopathies v3.7 GLIS2 Achchuthan Shanmugasundram Publications for gene: GLIS2 were set to 17618285; 18227149; 23559409; 26374130; 31676329
Renal ciliopathies v3.7 GLIS2 Achchuthan Shanmugasundram Publications for gene: GLIS2 were set to 26374130; 23559409; 17618285; 18227149
Renal ciliopathies v3.6 GLIS2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GLIS2.
Renal ciliopathies v3.6 GLIS2 Achchuthan Shanmugasundram changed review comment from: PMID:17618285 reported the identification of a homozygous splice site GLIS2 variant in three members of a consanguineous Canadian Oji-Cree family and they presented with nephronophthisis. All developed end-stage kidney disease by age 8 years and underwent renal transplantation. Experimental studies in Glis2 mutant mouse model showed severe renal atrophy and fibrosis starting at 8 weeks of age. Differential gene expression studies on Glis2 mutant kidneys demonstrate that genes promoting epithelial-to-mesenchymal transition and fibrosis are upregulated in the absence of Glis2.

PMID:23559409 reported the identification of a homozygous GLIS2 variant (p.Cys175Arg) in a patient of Turkish descent that was ascertained from a larger cohort of 1,056 individuals with nephronophthisis-related disorders who underwent genetic analysis. This patient had end stage renal disease at 15 years of age. PMID:26374130 provided functional evidence for the reported C175R variant, which showed that affects both localization and function of GLIS2.

PMID:31676329 reported the identification of a novel homozygous in-frame deletion (p.H188_Y192del) of GLIS2 in a female from a consanguineous family. She presented at 9 years with echogenic kidneys with loss of cortico-medullary differentiation and progressive chronic kidney disease reaching kidney failure by 10 years of age.; to: PMID:17618285 reported the identification of a homozygous splice site GLIS2 variant in three members of a consanguineous Canadian Oji-Cree family and they presented with nephronophthisis. All developed end-stage kidney disease by age 8 years and underwent renal transplantation. Experimental studies in Glis2 mutant mouse model showed severe renal atrophy and fibrosis starting at 8 weeks of age. Differential gene expression studies on Glis2 mutant kidneys demonstrate that genes promoting epithelial-to-mesenchymal transition and fibrosis are upregulated in the absence of Glis2.

PMID:23559409 reported the identification of a homozygous GLIS2 variant (p.Cys175Arg) in a patient of Turkish descent that was ascertained from a larger cohort of 1,056 individuals with nephronophthisis-related disorders who underwent genetic analysis. This patient had end stage renal disease at 15 years of age. PMID:26374130 provided functional evidence for the reported C175R variant, which showed that affects both localization and function of GLIS2.

PMID:31676329 reported the identification of a novel homozygous in-frame deletion (p.H188_Y192del) of GLIS2 in a female from a consanguineous family. She presented at 9 years of age with echogenic kidneys with loss of cortico-medullary differentiation and progressive chronic kidney disease reaching kidney failure by 10 years of age.
Renal ciliopathies v3.6 GLIS2 Achchuthan Shanmugasundram reviewed gene: GLIS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17618285, 23559409, 26374130, 31676329; Phenotypes: Nephronophthisis 7, OMIM:611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies v0.1 GLIS2 Eleanor Williams gene: GLIS2 was added
gene: GLIS2 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Expert Review Amber,Radboud University Medical Center, Nijmegen,Orphanet,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GLIS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLIS2 were set to 26374130; 23559409; 17618285; 18227149
Phenotypes for gene: GLIS2 were set to Nephronophthisis; NPHP; Nephronophthisis 7, 611498