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Fetal anomalies

Gene: MET

Red List (low evidence)
MET (MET proto-oncogene, receptor tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000105976
EnsemblGeneIds (GRCh37): ENSG00000105976
OMIM: 164860, Gene2Phenotype
MET is in 10 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

New gene added to this panel with a Red rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Red List (low evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Green in a number of panels including arthrogryposis. Only seen so far in two familes, and no evidence of prenatal arthrogryposis - seemed to present in adulthood / childhood. Two adjacent missense variants in (p.Tyr1234Cys) and (p.Tyr1235Cys) - see comments in ARTHRO panel on PanelApp. Gene also associated with Papillary Renal Cell Carcinoma (proto-oncogene) so may get IFs. Not to include at present - ? Amber or even red
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Arthrogryposis, distal, type 1

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • ?Arthrogryposis, distal, type 1
OMIM
164860
Clinvar variants
Variants in MET
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: MET was added gene: MET was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: MET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MET were set to 30777867; 38429387 Phenotypes for gene: MET were set to ?Arthrogryposis, distal, type 1