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Mendeliome

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

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Approx 5% of LCA are caused by variants in RPGRIP1 (gene reviews)

Some recent publications:
PMID: 33308271
2 LCA families chet for variants in RPGRIP1 + 1 family digenic with GUCY2D

PMID: 31666973
3 unrelated LCA patients
Created: 23 Feb 2021, 12:10 a.m. | Last Modified: 23 Feb 2021, 12:10 a.m.
Panel Version: 0.6428

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cone-rod dystrophy 13 (MIM#608194) , Leber congenital amaurosis (MIM#61382)

Publications

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Plays an essential role in the photoreceptor connecting cilia (PMID: 25414380). Multiple families reported.

PMID: 28456785; Huang 2017: 3 families reported. 1 of which harboured intragenic (exon 1-22) deletion.

PMID: 24997176; Khan 2014: Reported 11 consang families with variants in RPGRIP1 but 9 of 11 harboured the same p.(Glu370Asnfs*5) variant.

PMID: 28559085; Stone 2017: 2 additional LCA patients reported.

Hameed 2003: Reported 2 different hom missense in 2 families. One of which, Ala547Ser, is present in gnomad (6704 homozygotes)

Green in Retinal disorders panel - PanelApp UK
Sources: Expert Review
Created: 20 May 2020, 7:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 6 (MIM#613826)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cone-rod dystrophy 13 (MIM#608194) , Leber congenital amaurosis (MIM#61382)
OMIM
605446
Clinvar variants
Variants in RPGRIP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Feb 2021, 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).

23 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RPGRIP1 were set to

23 Feb 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RPGRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPGRIP1 was added gene: RPGRIP1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RPGRIP1 was set to Unknown