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  2. Nephrocalcinosis or nephrolithiasis
  3. ADCY10
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Nephrocalcinosis or nephrolithiasis

Gene: ADCY10

Red List (low evidence)
ADCY10 (adenylate cyclase 10)
EnsemblGeneIds (GRCh38): ENSG00000143199
EnsemblGeneIds (GRCh37): ENSG00000143199
OMIM: 605205, Gene2Phenotype
ADCY10 is in 1 panel

4 reviews

Detlef Bockenhauer (GOSH-UCL)

Red List (low evidence)

I cannot find any evidence that that is a NC gene
Created: 30 Oct 2019, 11:59 a.m. | Last Modified: 30 Oct 2019, 11:59 a.m.
Panel Version: 1.23
Created: 30 Oct 2019, 11:59 a.m.
Last Modified: 30 Oct 2019, 11:59 a.m.
Panel version: 1.23

Eleanor Williams (Genomics England Curator)

A PubMed search in Oct 2019 did not find any cases of an association of variants in this gene with Nephrocalcinosis or nephrolithiasis.
Created: 10 Oct 2019, 4:04 p.m. | Last Modified: 10 Oct 2019, 4:04 p.m.
Panel Version: 1.18
Created: 10 Oct 2019, 4:04 p.m.
Last Modified: 10 Oct 2019, 4:04 p.m.
Panel version: 1.18

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: After a search of databases and an extensive literature there seems to be little clinical evidence of clear cases/families with renal tract calcification and pathogenic variants reported in this gene. The gene should therefore remain red until further evidence arises or is provided by external review.
Created: 20 May 2016, 9:04 a.m.
Created: 20 May 2016, 9:04 a.m.

Panel version: 0.44

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert
OMIM
605205
Clinvar variants
Variants in ADCY10
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 May 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ADCY10 were set to PMID: 24907563 (review)

8 May 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

ADCY10 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert