Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: ADAMTS9

Red List (low evidence)

ADAMTS9 (ADAM metallopeptidase with thrombospondin type 1 motif 9)
EnsemblGeneIds (GRCh38): ENSG00000163638
EnsemblGeneIds (GRCh37): ENSG00000163638
OMIM: 605421, Gene2Phenotype
ADAMTS9 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

LIMITED by ClinGen, several families reported with bi-allelic variants and variable features of a ciliopathy. However, evidence presented deemed of poor quality due to a variety of factors. RED on this panel.
Sources: Literature
Created: 21 May 2025, 11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related
OMIM
605421
Clinvar variants
Variants in ADAMTS9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 May 2025, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adamts9 has been classified as Red List (Low Evidence).

21 May 2025, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADAMTS9 was added gene: ADAMTS9 was added to Fetal anomalies. Sources: Literature 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 Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related Review for gene: ADAMTS9 was set to RED