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RPGRIP1 and Leber congenital amaurosis are reported together in 5 articles.
Gene
RPGRIP1
- HGNC
- HGNC:13436
7articles
7mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Leber congenital amaurosis
26articles
26mentions
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
5 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 | Leber congenital amaurosis | “Leber congenital amaurosis (LCA) and early-onset retinal degeneration (EORD) are inherited retinal diseases (IRD) characterized by early-onset vision impairment.” | 0.98 | 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 |
Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish.
PMID 29203866 | PMCID PMC5715152 | DOI 10.1038/s41598-017-12838-x · Scientific reports · 2017 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RPGRIP1 | “Mutations in the RPGR-interacting protein 1 (RPGRIP1) gene cause recessive Leber congenital amaurosis (LCA), juvenile retinitis pigmentosa (RP) and cone-rod dystrophy.” | 0.98 | hgnc_dict_v1 |
| phenotype | Leber congenital amaurosis | “Mutations in the RPGR-interacting protein 1 (RPGRIP1) gene cause recessive Leber congenital amaurosis (LCA), juvenile retinitis pigmentosa (RP) and cone-rod dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | retinitis pigmentosa | “Mutations in the RPGR-interacting protein 1 (RPGRIP1) gene cause recessive Leber congenital amaurosis (LCA), juvenile retinitis pigmentosa (RP) and cone-rod dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
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 | Leber congenital amaurosis | “Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.” | 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 | 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 |
| 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 |
Mutation survey of known LCA genes and loci in the Saudi Arabian population.
PMID 18936139 | PMCID PMC2695987 | DOI 10.1167/iovs.08-2589 · Investigative ophthalmology & visual science · 2009 · 15 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RPGRIP1 | “METHODS: Direct PCR and sequencing were used to screen 13 known LCA genes (GUCY2D, CRX, RPE65, TULP1, AIPL1, CRB1, RPGRIP1, LRAT, RDH12, IMPDH1, CEP290, RD3, LCA5).” | 0.98 | hgnc_dict_v1 |
| phenotype | Leber congenital amaurosis | “Mutation survey of known LCA genes and loci in the Saudi Arabian population.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | GUCY2D | “METHODS: Direct PCR and sequencing were used to screen 13 known LCA genes (GUCY2D, CRX, RPE65, TULP1, AIPL1, CRB1, RPGRIP1, LRAT, RDH12, IMPDH1, CEP290, RD3, LCA5).” | 0.98 | hgnc_dict_v1 |
| gene | CRX | “METHODS: Direct PCR and sequencing were used to screen 13 known LCA genes (GUCY2D, CRX, RPE65, TULP1, AIPL1, CRB1, RPGRIP1, LRAT, RDH12, IMPDH1, CEP290, RD3, LCA5).” | 0.98 | hgnc_dict_v1 |