Renal Tubulopathies and related disorders
Gene: ADCY10
PMID: 11932268 - association study
ClinVar:
10x LP/P PTCs, spread throughout the protein
gnomAD:
p.Arg1334Ter which is pathogenic in ClinVar, 12 hets in gnomAD
p.Leu1493SerfsTer24 also pathogenic in ClinVar, 117 hets in gnomAD - NMD pred
PMID: 31119281 - hom family with asthenozoospermic, fs variant also segregated with AD inheritance in 6/6 het relatives with absorptive hypercalciuria and calcium kidney stones
PMID: 25296721 - 3 het families with nephrolithiasis (missense, 2x PTC), one PTC was p.Leu1493SerfsTer24 highly prevalent in gnomAD. Authors acknowledge questionable gene-disease association.
PMID: 32913531 - not counting. Many errors throughout the paper. Describes 2 probands in the abstract (only 1 in text), pedigree describes proband as homozygous with het parents and child - not described in text.
PMID: 34463764 - gene inhibitor affected sperm function in human and mouseCreated: 22 Mar 2022, 6:09 a.m. | Last Modified: 22 Mar 2022, 6:09 a.m.
Panel Version: 0.11730
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypercalciuria, absorptive, susceptibility to MIM#143870; asthenozoospermia with absorptive hypercalciuria
Publications
Comment when marking as ready: Downgraded to Red after comparison with Genomics England PanelApp rating.Created: 16 Jan 2020, 7:40 a.m. | Last Modified: 16 Jan 2020, 7:40 a.m.
Panel Version: 0.15
Association study only
Sources: Expert listCreated: 20 Nov 2019, 5:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypercalciuria, absorptive, susceptibility to, MIM#143870
Publications
Variants in this GENE are reported as part of current diagnostic practice
gene: ADCY10 was added gene: ADCY10 was added to Renal Tubulopathies and related disorders. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: ADCY10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADCY10 were set to 11932268 Phenotypes for gene: ADCY10 were set to Hypercalciuria, absorptive, susceptibility to, MIM#143870