Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: TULP1

Green List (high evidence)

TULP1 (tubby like protein 1)
EnsemblGeneIds (GRCh38): ENSG00000112041
EnsemblGeneIds (GRCh37): ENSG00000112041
OMIM: 602280, Gene2Phenotype
TULP1 is in 8 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Reported in multiple RP families.
TULP1 expressed in the retina and localizes to the inner segments and connecting cilium of photoreceptors (PMID: 17620573)
Created: 20 May 2020, 3:59 a.m. | Last Modified: 20 May 2020, 3:59 a.m.
Panel Version: 0.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 14 M(MIM#600132)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Leber congenital amaurosis 15, 613843
  • Retinitis pigmentosa 14, 600132
OMIM
602280
Clinvar variants
Variants in TULP1
Penetrance
None
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TULP1 was added gene: TULP1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TULP1 were set to Leber congenital amaurosis 15, 613843; Retinitis pigmentosa 14, 600132