Ophthalmological ciliopathies

Gene: TULP1

Red List (low evidence)

TULP1 (tubby like protein 1)
EnsemblGeneIds (GRCh38): ENSG00000112041
EnsemblGeneIds (GRCh37): ENSG00000112041
OMIM: 602280, Gene2Phenotype
TULP1 is in 9 panels

1 review

Alice Gardham (Genomics England)

Comment on list classification: Leber congenital amaurosis and retinitis pigmentosa are not included on this panel
Created: 23 Jan 2017, 12:10 p.m.


  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Retinitis pigmentosa 14, 600132
  • Leber congenital amaurosis 15, 613843
  • Ciliopathies
Clinvar variants
Variants in TULP1
Panels with this gene

History Filter Activity

8 Jul 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: TULP1 was added gene: TULP1 was added to Ophthalmological ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert Review Red Mode of inheritance for gene: TULP1 was set to Phenotypes for gene: TULP1 were set to Retinitis pigmentosa 14, 600132; Leber congenital amaurosis 15, 613843; Ciliopathies