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Retinal disorders

Region: Chr17q22

Retinitis pigmentosa 17 locus

No list
Chromosome: 17
GRCh38 Position: 59421853-59433404
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 80%
Variant types: CNV Gain

1 review

Katie Cox (Great Ormond Street Hospital)

Structural variants in the RP17 locus (chr17q22-q23) have been associated with Retinitis pigmentosa 17.

PMID: 33022222- Eight different complex SVs were characterized in 22 adRP-affected families with >300 affected individuals. All RP17 SVs had breakpoints within a genomic region spanning YPEL2 to LINC01476.
Created: 24 Jun 2026, 2:35 p.m. | Last Modified: 24 Jun 2026, 2:35 p.m.
Panel Version: 9.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
RETINITIS PIGMENTOSA 17 (OMIM #600852)

Publications

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

Created: 24 Jun 2026, 2:35 p.m.
Last Modified: 24 Jun 2026, 2:35 p.m.
Panel version: 9.5

Details

ISCA ID
Chr17q22
ISCA Region Name
Retinitis pigmentosa 17 locus
Chromosome
17
GRCh38 Coordinates
59421853-59433404
Haploinsufficiency Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap
80%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Retinitis pigmentosa
Clinvar variants
Variants in
Penetrance
Complete
Variant types
CNV Gain
Publications

History Filter Activity

24 Jun 2026, Gel status: 0

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

Katie Cox (Great Ormond Street Hospital)

Region: Chr17q22 was added Region: Chr17q22 was added to Retinal disorders. Sources: Literature Mode of inheritance for Region: Chr17q22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: Chr17q22 were set to PMID: 33022222 Phenotypes for Region: Chr17q22 were set to Retinitis pigmentosa Penetrance for Region: Chr17q22 were set to Complete Review for Region: Chr17q22 was set to GREEN Region: Chr17q22 was marked as current diagnostic