Tubulointerstitial kidney disease

Gene: ADAMTS9

Amber List (moderate evidence)

ADAMTS9 (ADAM metallopeptidase with thrombospondin type 1 motif 9)
EnsemblGeneIds (GRCh38): ENSG00000163638
EnsemblGeneIds (GRCh37): ENSG00000163638
OMIM: 605421, Gene2Phenotype
ADAMTS9 is in 3 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted:ADAMTS9;Suggested initial gene rating: Amber;Evidence for inclusion: 2 families described by Choi et al;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided
Created: 2 Feb 2019, 12:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis-Related Ciliopathy (no OMIM number yet)

Publications

  • Choi et al Am J Hum Genet. 2019.104(1):45-54. PMID: 30609407

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Nephronophthisis-Related Ciliopathy (no OMIM number yet)
OMIM
605421
Clinvar variants
Variants in ADAMTS9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Feb 2019, Gel status: 2

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

Eleanor Williams (Genomics England Curator)

gene: ADAMTS9 was added gene: ADAMTS9 was added to Tubulointerstitial kidney disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS9 were set to 30609407 Phenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy (no OMIM number yet)