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  2. Structural eye disease
  3. TULP1
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Structural eye disease

Gene: TULP1

Red List (low evidence)
TULP1 (tubby like protein 1)
EnsemblGeneIds (GRCh38): ENSG00000112041
EnsemblGeneIds (GRCh37): ENSG00000112041
OMIM: 602280, Gene2Phenotype
TULP1 is in 9 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 15; Retinitis pigmentosa 14; 613843; 600132

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 15; Retinitis pigmentosa 14; 613843; 600132

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • 613843
  • 600132
  • Retinitis pigmentosa 14
  • Leber congenital amaurosis 15
  • Eye Disorders
OMIM
602280
Clinvar variants
Variants in TULP1
Penetrance
None
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TULP1. Mode of inheritance for gene TULP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 600132; Retinitis pigmentosa 14; Leber congenital amaurosis 15; 613843 for gene: TULP1

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: TULP1 was added gene: TULP1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TULP1 was set to Phenotypes for gene: TULP1 were set to Eye Disorders