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  3. ADCY10
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Calcium and Phosphate disorders

Gene: ADCY10

Amber List (moderate evidence)
ADCY10 (adenylate cyclase 10)
EnsemblGeneIds (GRCh38): ENSG00000143199
EnsemblGeneIds (GRCh37): ENSG00000143199
OMIM: 605205, Gene2Phenotype
ADCY10 is in 3 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

I don't know

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 mouse
Created: 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

Created: 22 Mar 2022, 6:09 a.m.
Last Modified: 22 Mar 2022, 6:09 a.m.
Panel version: Imported from Mendeliome panel version 0.11730

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Association study only
Sources: Expert list
Created: 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

Created: 20 Nov 2019, 5:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review Amber
  • Expert list
Phenotypes
  • Hypercalciuria, absorptive, susceptibility to, MIM#143870
OMIM
605205
Clinvar variants
Variants in ADCY10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adcy10 has been classified as Amber List (Moderate Evidence).

20 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adcy10 has been classified as Amber List (Moderate Evidence).

20 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADCY10 was added gene: ADCY10 was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: 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 Review for gene: ADCY10 was set to AMBER gene: ADCY10 was marked as current diagnostic