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Cystic kidney disease v5.3 NEK8 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: NEK8.
Cystic kidney disease v5.3 NEK8 Arina Puzriakova reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cystic kidney disease v5.2 NEK8 Achchuthan Shanmugasundram Source Expert Review Green was added to NEK8.
Source NHS GMS was added to NEK8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cystic kidney disease v4.24 NEK8 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: NEK8.
Cystic kidney disease v4.24 NEK8 Achchuthan Shanmugasundram Classified gene: NEK8 as Amber List (moderate evidence)
Cystic kidney disease v4.24 NEK8 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available in support of the association of monoallelic NEK8 variants with polycystic kidney disease. Hence, this gene can be promoted to green rating in the next GMS review.
Cystic kidney disease v4.24 NEK8 Achchuthan Shanmugasundram Gene: nek8 has been classified as Amber List (Moderate Evidence).
Cystic kidney disease v4.23 NEK8 Achchuthan Shanmugasundram Mode of inheritance for gene: NEK8 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cystic kidney disease v4.22 NEK8 Achchuthan Shanmugasundram edited their review of gene: NEK8: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cystic kidney disease v4.22 NEK8 Achchuthan Shanmugasundram changed review comment from: PMID:37598857 reported the identification of monoallelic NEK8 variants in 12 different families reported with autosomal dominant polycystic kidney disease (ADPKD). Of these, de novo missense variant p.Arg45Trp was found in 10 families and missense variants p.Ile150Met and p.Lys157Gln were found in one family each. Patient fibroblasts show normal ciliogenesis and normal localisation and expression of NEK8.

PMID:18199800 reported one patient with biallelic NEK8 variant (p.His425Tyr) and with nephronophthisis. Nephronophthisis is an autosomal recessive kidney disease that leads to kidney cyst formation and progressive renal failure.

Although nephronophthisis 9 (MIM #613824) caused by biallelic variants is reported in both OMIM and Gene2Phenotype, cystic kidney disease caused by monoallelic variants are not yet reported in these resources.; to: PMID:37598857 reported the identification of monoallelic NEK8 variants in 12 different families reported with autosomal dominant polycystic kidney disease (ADPKD). Of these, de novo missense variant p.Arg45Trp was found in 10 families and missense variants p.Ile150Met and p.Lys157Gln were found in one family each. Patient fibroblasts show normal ciliogenesis and normal localisation and expression of NEK8. Carriers of AR-NEK8 disease do not show renal manifestations, as variants are LOF and these variants are suspected of dominant negative effect.

PMID:18199800 reported one patient with biallelic NEK8 variant (p.His425Tyr) and with nephronophthisis. Nephronophthisis is an autosomal recessive kidney disease that leads to kidney cyst formation and progressive renal failure.

Although nephronophthisis 9 (MIM #613824) caused by biallelic variants is reported in both OMIM and Gene2Phenotype, cystic kidney disease caused by monoallelic variants are not yet reported in these resources.
Cystic kidney disease v4.22 NEK8 Achchuthan Shanmugasundram Mode of pathogenicity for gene: NEK8 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cystic kidney disease v4.21 NEK8 Achchuthan Shanmugasundram Publications for gene: NEK8 were set to
Cystic kidney disease v4.20 NEK8 Achchuthan Shanmugasundram Phenotypes for gene: NEK8 were changed from Ciliopathy genes associated with cystic kidney disease to polycystic kidney disease, MONDO:0020642; ?Nephronophthisis 9, OMIM:613824
Cystic kidney disease v4.19 NEK8 Achchuthan Shanmugasundram changed review comment from: PMID:37598857 reported the identification of monoallelic NEK8 variants in 12 different families reported with autosomal dominant polycystic kidney disease (ADPKD). Of these, de novo missense variant p.Arg45Trp was found in 10 families and missense variants p.Ile150Met and p.Lys157Gln were found in one family each. Patient fibroblasts show normal ciliogenesis and normal localisation and expression of NEK8.; to: PMID:37598857 reported the identification of monoallelic NEK8 variants in 12 different families reported with autosomal dominant polycystic kidney disease (ADPKD). Of these, de novo missense variant p.Arg45Trp was found in 10 families and missense variants p.Ile150Met and p.Lys157Gln were found in one family each. Patient fibroblasts show normal ciliogenesis and normal localisation and expression of NEK8.

PMID:18199800 reported one patient with biallelic NEK8 variant (p.His425Tyr) and with nephronophthisis. Nephronophthisis is an autosomal recessive kidney disease that leads to kidney cyst formation and progressive renal failure.

Although nephronophthisis 9 (MIM #613824) caused by biallelic variants is reported in both OMIM and Gene2Phenotype, cystic kidney disease caused by monoallelic variants are not yet reported in these resources.
Cystic kidney disease v4.19 NEK8 Achchuthan Shanmugasundram edited their review of gene: NEK8: Changed publications to: 18199800, 37598857; Changed phenotypes to: polycystic kidney disease, MONDO:0020642, ?Nephronophthisis 9, OMIM:613824
Cystic kidney disease v4.19 NEK8 Achchuthan Shanmugasundram reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 37598857; Phenotypes: polycystic kidney disease, MONDO:0020642; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cystic kidney disease v4.17 NEK8 Dmitrijs Rots reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 37598857; Phenotypes: polycystic kidney disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted