Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: TULP1

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

Created: 20 May 2020, 12:13 a.m.
Last Modified: 20 May 2020, 12:13 a.m.
Panel version: Imported from Retinitis Pigmentosa panel version 0.24

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

Retinitis pigmentosa_Autosomal Recessive/X-linked Gene: TULP1