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Unexplained young onset end-stage renal disease v2.6 CHRM3 Sarah Leigh Tag Q3_22_rating was removed from gene: CHRM3.
Unexplained young onset end-stage renal disease v2.6 CHRM3 Sarah Leigh reviewed gene: CHRM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v2.5 CHRM3 Sarah Leigh Source Expert Review Green was added to CHRM3.
Source NHS GMS was added to CHRM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease v1.40 CHRM3 Arina Puzriakova Classified gene: CHRM3 as Amber List (moderate evidence)
Unexplained young onset end-stage renal disease v1.40 CHRM3 Arina Puzriakova Added comment: Comment on list classification: Two unrelated families with urinary bladder disease (PMIDs: 22077972; 31441039) have now been published (including the one previously reviewed by Adrian Woolf in 2016), and given that the null mutant mouse model recapitulates the human phenotype (PMID: 10944224), this gene can now be promoted to Green status at the next GMS review.
Unexplained young onset end-stage renal disease v1.40 CHRM3 Arina Puzriakova Gene: chrm3 has been classified as Amber List (Moderate Evidence).
Unexplained young onset end-stage renal disease v1.39 CHRM3 Arina Puzriakova Tag Q3_22_rating tag was added to gene: CHRM3.
Unexplained young onset end-stage renal disease v1.39 CHRM3 Arina Puzriakova Phenotypes for gene: CHRM3 were changed from Low pressure congenital megabladder; Prune Belly-Like Syndrome to Prune belly syndrome, OMIM:100100; Megacystis; Urinary Bladder Disease
Unexplained young onset end-stage renal disease v1.38 CHRM3 Arina Puzriakova Publications for gene: CHRM3 were set to Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altm ller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann K-P, Beetz R, Hoyer PF, Konrad M, Schaefer F, N rnberg P, Woolf AS. Muscarinic acetylcholine receptor M3 mutation causes urinary bladder disease and a prune-belly-like syndrome. Am J Hum Genet 89:668-674, 2011.
Unexplained young onset end-stage renal disease v0.2 CHRM3 Eleanor Williams reviewed gene: CHRM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.1 CHRM3 Eleanor Williams gene: CHRM3 was added
gene: CHRM3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: CHRM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRM3 were set to Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altm ller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann K-P, Beetz R, Hoyer PF, Konrad M, Schaefer F, N rnberg P, Woolf AS. Muscarinic acetylcholine receptor M3 mutation causes urinary bladder disease and a prune-belly-like syndrome. Am J Hum Genet 89:668-674, 2011.
Phenotypes for gene: CHRM3 were set to Low pressure congenital megabladder; Prune Belly-Like Syndrome