Ciliopathies
Gene: TULP1
TULP1 (tubby like protein 1)
EnsemblGeneIds (GRCh38): ENSG00000112041
EnsemblGeneIds (GRCh37): ENSG00000112041
OMIM: 602280, Gene2Phenotype
TULP1 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000112041
EnsemblGeneIds (GRCh37): ENSG00000112041
OMIM: 602280, Gene2Phenotype
TULP1 is in 8 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
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 ReviewCreated: 20 May 2020, 3:58 a.m.
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
- Phenotypes
-
- Retinitis pigmentosa 14 M(MIM#600132)
- OMIM
- 602280
- Clinvar variants
- Variants in TULP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
20 May 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tulp1 has been classified as Green List (High Evidence).
20 May 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tulp1 has been classified as Green List (High Evidence).
20 May 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Crystle Lee (Victorian Clinical Genetics Services)gene: TULP1 was added gene: TULP1 was added to Ciliopathies. Sources: Expert Review Mode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TULP1 were set to 17620573; 27440997; 21987678; 15557452 Phenotypes for gene: TULP1 were set to Retinitis pigmentosa 14 M(MIM#600132) Review for gene: TULP1 was set to GREEN