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Fetal anomalies

Gene: TAAR1

Red List (low evidence)
TAAR1 (trace amine associated receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000146399
EnsemblGeneIds (GRCh37): ENSG00000146399
OMIM: 609333, Gene2Phenotype
TAAR1 is in 1 panel

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

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’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
Homozygous frameshift (not NMD but severely truncated protein) in a fetus with cerebellar vermis hypoplasia, cystic kidneys, polydactyly (39891418). TAAR1 KO mice show electrophysiological differences related to dopaminergic neurotransmission (18083911) but no structural abnormalities noted. Limited evidence for disease association. One individual in gnomAD with a homozygous frameshift in a similar location.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar vermis hypoplasia, cystic kidneys, polydactyly

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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Cerebellar vermis hypoplasia, cystic kidneys, polydactyly
OMIM
609333
Clinvar variants
Variants in TAAR1
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: TAAR1 was added gene: TAAR1 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: TAAR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAAR1 were set to 39891418 Phenotypes for gene: TAAR1 were set to Cerebellar vermis hypoplasia, cystic kidneys, polydactyly