Tubulointerstitial kidney disease
Gene: ADAMTS9

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

Created: 2 Feb 2019, 12:48 a.m.

Panel version: 0.3

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

30609407

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)

Tubulointerstitial kidney disease Gene: ADAMTS9