1. Panels
  2. Fetal anomalies
  3. TULP3
Genes in panel
Prev Next

Fetal anomalies

Gene: TULP3

Red List (low evidence)
TULP3 (tubby like protein 3)
EnsemblGeneIds (GRCh38): ENSG00000078246
EnsemblGeneIds (GRCh37): ENSG00000078246
OMIM: 604730, Gene2Phenotype
TULP3 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. 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, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Red List (low evidence)

Green on cystic kidney disease panel. Fibrotic disease affecting the liver, kidney, and heart. Age at presentation varies from infancy to the 3rd decade. No evidence of prenatal onset.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hepatorenocardiac degenerative fibrosis, MIM #619902

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Hepatorenocardiac degenerative fibrosis, OMIM:619902
OMIM
604730
Clinvar variants
Variants in TULP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TULP3 was added gene: TULP3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TULP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TULP3 were set to 30799240; 36276950; 36460032; 35397207; 30799239 Phenotypes for gene: TULP3 were set to Hepatorenocardiac degenerative fibrosis, OMIM:619902