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Gene: RPGRIP1

Green List (high evidence)

RPGRIP1 (RPGR interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000092200
EnsemblGeneIds (GRCh37): ENSG00000092200
OMIM: 605446, Gene2Phenotype
RPGRIP1 is in 9 panels

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision.

Leber congenital amaurosis 6 (LCA6) is a specific genetic variant of Leber congenital amaurosis, a severe eye disease causing profound vision loss from birth and typically presenting with symptoms like nystagmus, poor pupillary light response, and significant visual impairment.

HGNC approved symbol/name: RPGRIP1
Is the phenotype(s) severe and onset <18yo? Y
Known technical challenges? Y Structural variants found in Japanese population (1339-bp deletion in exon 18, annotation of the exon number changed according to the recent identification of a new exon corresponding to the 5’UTR)
Created: 4 Feb 2025, 3:31 a.m. | Last Modified: 4 Feb 2025, 3:31 a.m.
Panel Version: 1.1397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cone-rod dystrophy 13 MIM#608194, MONDO:0011987, Leber congenital amaurosis MIM#61382,MONDO:0013446

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cone-rod dystrophy 13 MIM#608194, MONDO:0011987, Leber congenital amaurosis MIM#61382,MONDO:0013446
OMIM
605446
Clinvar variants
Variants in RPGRIP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpgrip1 has been classified as Green List (High Evidence).

4 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPGRIP1 were changed from Cone-rod dystrophy 13, 608194 (3) to Cone-rod dystrophy 13 MIM#608194, MONDO:0011987, Leber congenital amaurosis MIM#61382,MONDO:0013446

4 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RPGRIP1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPGRIP1 was added gene: RPGRIP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPGRIP1 were set to Cone-rod dystrophy 13, 608194 (3)