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| Ciliopathies v0.413 | RPGRIP1L | Zornitza Stark Marked gene: RPGRIP1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.413 | RPGRIP1L | Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.413 | RPGRIP1L | Zornitza Stark Phenotypes for gene: RPGRIP1L were changed from to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Nephronophthisis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.412 | RPGRIP1L | Zornitza Stark Publications for gene: RPGRIP1L were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.411 | RPGRIP1L | Zornitza Stark Mode of inheritance for gene: RPGRIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.410 | RPGRIP1L | Zornitza Stark edited their review of gene: RPGRIP1L: Changed publications: 17558409, 17558407, 17960139, 26071364, 19574260, 29991045; Changed phenotypes: Joubert syndrome 7, MIM# 611560, Meckel syndrome 5, MIM# 611561, COACH syndrome 3, MIM# 619113, Nephronophthisis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.182 | RPGRIP1 | Zornitza Stark Marked gene: RPGRIP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.182 | RPGRIP1 | Zornitza Stark Gene: rpgrip1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.182 | RPGRIP1 | Zornitza Stark Classified gene: RPGRIP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.182 | RPGRIP1 | Zornitza Stark Gene: rpgrip1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.168 | RPGR | Zornitza Stark Marked gene: RPGR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.168 | RPGR | Zornitza Stark Gene: rpgr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.168 | RPGR | Zornitza Stark Phenotypes for gene: RPGR were changed from to Retinitis pigmentosa 3 (MIM#300029) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.167 | RPGR | Zornitza Stark Publications for gene: RPGR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.166 | RPGR | Zornitza Stark Mode of inheritance for gene: RPGR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.165 | RPGRIP1 |
Crystle Lee 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 Added comment: 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 |
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| Ciliopathies v0.161 | RPGR | Crystle Lee reviewed gene: RPGR: Rating: GREEN; Mode of pathogenicity: None; Publications: 19815619, 31775781, 26093275, 30105367; Phenotypes: Retinitis pigmentosa 3 (MIM#300029); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v0.0 | RPGRIP1L |
Zornitza Stark gene: RPGRIP1L was added gene: RPGRIP1L was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RPGRIP1L was set to Unknown |
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| Ciliopathies v0.0 | RPGR |
Zornitza Stark gene: RPGR was added gene: RPGR was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RPGR was set to Unknown |
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