Congenital nystagmus
Gene: TULP1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 families reported with LCA. Variants in this gene also cause RP.
Created: 25 Oct 2021, 4:57 a.m. | Last Modified: 25 Oct 2021, 4:57 a.m.

Panel Version: 0.64

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 15, MIM# 613843

Publications

Created: 25 Oct 2021, 4:57 a.m.
Last Modified: 25 Oct 2021, 4:57 a.m.
Panel version: 0.64

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)

Green in 'Retinal disorders' - PanelApp UK
Sources: Expert Review
Created: 20 May 2020, 3:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 14 M(MIM#600132)

Publications

Created: 20 May 2020, 3:58 a.m.

Panel version: Imported from Mendeliome panel version Imported from Ciliopathies panel version 0.162

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list
Genomics England PanelApp
NHS Genomic Medicine Service

Phenotypes

Leber congenital amaurosis 15, MIM# 613843

OMIM

602280

Clinvar variants

Variants in TULP1

Penetrance

None

Publications

Panels with this gene