Skeletal dysplasia
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)

Several families also reported with LCA.
Created: 19 Jul 2021, 3:37 a.m. | Last Modified: 19 Jul 2021, 3:37 a.m.

Panel Version: 0.8437

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 15, MIM# 613843

Publications

15024725

Created: 19 Jul 2021, 3:36 a.m.
Last Modified: 19 Jul 2021, 3:36 a.m.
Panel version: Imported from Mendeliome panel version 0.8437

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

Sources

Expert Review Green
Emory Genetics Laboratory
Victorian Clinical Genetics Services

OMIM

602280

Clinvar variants

Variants in TULP1

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TULP1 was added gene: TULP1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory Mode of inheritance for gene: TULP1 was set to

Skeletal dysplasia Gene: TULP1