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  3. ADAMTS9
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Fetal anomalies

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 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Elizabeth Scotchman (North Thames Genomic Laboratory Hub)

I don't know

Associated with Nephropathy-related ciliopathy. Red on Aus fetal anomalies panel, reviewed in May 2025 (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). PMID 34750010 describes 1 patient with incomplete molar tooth sign as the only brain anomaly and no other features that would be detectable on USS. PMID 30609407 describes 2 patients, one of which shows agenesis of the corpus callosum and cephalad rotation of the hypoplastic cerebellar vermis leading to cystic dilation of the fourth ventricle and cisterna magna.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ciliopathy

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ciliopathy
OMIM
605421
Clinvar variants
Variants in ADAMTS9
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes ciliopathy for gene: ADAMTS9

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: ADAMTS9 was added gene: ADAMTS9 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal