Retinal disorders

Gene: TOPORS

Green List (high evidence)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Retinitis pigmentosa 31

Variants in this GENE are reported as part of current diagnostic practice

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, 8:06 a.m.

Green List (high evidence)

We have identified nonsense mutations, in a heterozygous state, in unrelated patients with ADRP. Reports in the literature suggest this is a dominant gene but Bowne et al reports 2 mutations in a proband, and OMIM does not state inheritance mode. Gene probably needs to be included on green list.

Created: 1 Jun 2016, 11:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 31

Publications

• Several reports on HGMD of patients with RP,with truncating TOPORS mutations. Bowne et al (2008) Two different TOPORS mutations, p.Glu808X and p.Arg857GlyfsX9, were each identified in one proband. Patients with these mutations exhibited clinical signs typical of advanced adRP. Mol Vis May 19
• 14: 922-7
• O'Sullivan et al (2012) A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. J Med Genet. May
• 49(5):322-6
• Identified nonsense mutation Arg847Ter in RP patient
• Eisenberger et al (2013) Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS One. Nov 12
• 8(11):e78496

Variants in this GENE are reported as part of current diagnostic practice