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RPGRIP1 and retinal dystrophy are reported together in 3 articles.
Gene
RPGRIP1
- HGNC
- HGNC:13436
7articles
7mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Retinal dystrophy
- HPO
- HP:0000556
121articles
121mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
3 records shown · first 60Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.
PMID 38468396 | DOI 10.1111/cge.14517 · Clinical genetics · 2024 · 13 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RPGRIP1 | “A potential founder variant was found in RPGRIP1.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “Leber congenital amaurosis (LCA) and early-onset retinal degeneration (EORD) are inherited retinal diseases (IRD) characterized by early-onset vision impairment.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | RIMS2 | “Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.” | 0.98 | hgnc_dict_v1 |
| gene | ATF6 | “Homozygous pathogenic variants were identified in known IRD genes (ATF6, CRB1, CABP4, RDH12, RIMS2, RPGRIP1, SPATA7).” | 0.98 | hgnc_dict_v1 |
Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.
PMID 24997176 | DOI 10.1136/bjophthalmol-2014-305122 · The British journal of ophthalmology · 2014 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RPGRIP1 | “18/19 (22/23 children) had detectable causative recessive mutations, and these were in one of three genes only: 11 in RPGRIP1, 5 in GUCY2D and 2 in RPE65.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “BACKGROUND: Leber congenital amaurosis (LCA) is a severe infantile retinal dystrophy that is non-syndromic other than neurodevelopmental delay, reported in up to 20% of cases according to one older study.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | GUCY2D | “18/19 (22/23 children) had detectable causative recessive mutations, and these were in one of three genes only: 11 in RPGRIP1, 5 in GUCY2D and 2 in RPE65.” | 0.98 | hgnc_dict_v1 |
| gene | RPE65 | “18/19 (22/23 children) had detectable causative recessive mutations, and these were in one of three genes only: 11 in RPGRIP1, 5 in GUCY2D and 2 in RPE65.” | 0.98 | hgnc_dict_v1 |
The RPGRIP1-related retinal phenotype in children.
PMID 23505306 | DOI 10.1136/bjophthalmol-2012-303050 · The British journal of ophthalmology · 2013 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RPGRIP1 | “AIM: To characterise the childhood retinal phenotype associated with recessive mutations in retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), a gene that has been infrequently associated with Leber congenital amaurosis, the most severe form of childhood non-syndromic retinal dystrophy.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “AIM: To characterise the childhood retinal phenotype associated with recessive mutations in retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), a gene that has been infrequently associated with Leber congenital amaurosis, the most severe form of childhood non-syndromic retinal dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | retinitis pigmentosa | “AIM: To characterise the childhood retinal phenotype associated with recessive mutations in retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), a gene that has been infrequently associated with Leber congenital amaurosis, the most severe form of childhood non-syndromic retinal dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | Leber congenital amaurosis | “AIM: To characterise the childhood retinal phenotype associated with recessive mutations in retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), a gene that has been infrequently associated with Leber congenital amaurosis, the most severe form of childhood non-syndromic retinal dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |