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Retinal disorders

Gene: TULP1

Green List (high evidence)

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

2 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:05 a.m.


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • Leber congenital amaurosis 15
  • Retinitis pigmentosa 14
  • Leber Congenital Amaurosis
  • Retinitis pigmentosa 14, 600132
  • Eye Disorders
  • Retinitis pigmentosa 14, 600132Leber congenital amaurosis 15, 613843
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
Clinvar variants
Variants in TULP1
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TULP1. Rating Changed from Green List (high evidence) to Green List (high evidence)

23 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TULP1 was set to BIALLELIC, autosomal or pseudoautosomal

9 Mar 2016, Gel status: 0


Ellen McDonagh (Genomics England Curator)

TULP1 was created by ellenmcdonagh

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TULP1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green