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  3. RPGRIP1
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Ciliopathies

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

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

Created: 20 May 2020, 7:11 a.m.

Panel version: 0.165

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leber congenital amaurosis 6 (MIM#613826)
OMIM
605446
Clinvar variants
Variants in RPGRIP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 May 2020, 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).

21 May 2020, 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).

20 May 2020, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: RPGRIP1 was added gene: RPGRIP1 was added to Ciliopathies. Sources: Expert Review Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPGRIP1 were set to 25414380; 28456785; 24997176; 28559085 Phenotypes for gene: RPGRIP1 were set to Leber congenital amaurosis 6 (MIM#613826) Review for gene: RPGRIP1 was set to GREEN