| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital nystagmus v0.96 | PRPH2 | Zornitza Stark Marked gene: PRPH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.96 | PRPH2 | Zornitza Stark Gene: prph2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.96 | PRPH2 | Zornitza Stark Phenotypes for gene: PRPH2 were changed from to Leber congenital amaurosis 18 MIM#608133 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.95 | PRPH2 | Zornitza Stark Publications for gene: PRPH2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.94 | PRPH2 | Zornitza Stark Mode of inheritance for gene: PRPH2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.93 | PRPH2 | Zornitza Stark reviewed gene: PRPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33712029; Phenotypes: Leber congenital amaurosis 18 MIM#608133; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.89 | PRPH2 |
Belinda Chong changed review comment from: PubMed: 23847139 In 3 unrelated patients with early-onset retinal dystrophy who were negative for mutation in known LCA or juvenile RP genes, Wang et al. (2013) identified homozygosity for mutations in the PRPH2 gene: 2 of the patients, 1 diagnosed with Leber congenital amaurosis (LCA) and 1 with juvenile RP, were homozygous for the L185P mutation previously detected in patients with digenic RP7 (179605.0004), whereas the third patient, diagnosed with LCA, was homozygous for another missense mutation in PRPH2 (C213R; 179605.0023). PubMed: 25447119 Manes et al. (2015) screened for mutations in the PRPH2 gene in a cohort of 310 families, originating mainly from France, with autosomal dominant RP, and identified 15 different mutations in 32 probands, accounting for a prevalence of 10.3% in this population. PubMed: 1684223 In 3 unrelated families with RP, 1 of which included a patient who was previously reported by Kajiwara et al. (1991), Kajiwara et al. (1994) demonstrated that the L185P mutation (179605.0004) causes retinitis pigmentosa only when combined with a null mutation of the ROM1 gene in double heterozygous state; see 180721.0001.; to: PubMed: 23847139 In 3 unrelated patients with early-onset retinal dystrophy who were negative for mutation in known LCA or juvenile RP genes, Wang et al. (2013) identified homozygosity for mutations in the PRPH2 gene: 2 of the patients, 1 diagnosed with Leber congenital amaurosis (LCA) and 1 with juvenile RP, were homozygous for the L185P mutation previously detected in patients with digenic RP7 (179605.0004), whereas the third patient, diagnosed with LCA, was homozygous for another missense mutation in PRPH2 (C213R; 179605.0023). PubMed: 25447119 Manes et al. (2015) screened for mutations in the PRPH2 gene in a cohort of 310 families, originating mainly from France, with autosomal dominant RP, and identified 15 different mutations in 32 probands, accounting for a prevalence of 10.3% in this population. PubMed: 1684223 In 3 unrelated families with RP, 1 of which included a patient who was previously reported by Kajiwara et al. (1991), Kajiwara et al. (1994) demonstrated that the L185P mutation (179605.0004) causes retinitis pigmentosa only when combined with a null mutation of the ROM1 gene in double heterozygous state; see 180721.0001. |
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| Congenital nystagmus v0.89 | PRPH2 | Belinda Chong reviewed gene: PRPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23847139, 25447119, 1684223; Phenotypes: Choroidal dystrophy, central areolar 2 MIM#613105, Leber congenital amaurosis 18 MIM#608133, Macular dystrophy, patterned, 1 MIM#169150, Macular dystrophy, vitelliform, 3 MIM#608161, Retinitis pigmentosa 7 and digenic form MIM#608133, Retinitis punctata albescens MIM#136880; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital nystagmus v0.4 | PRPH2 |
Zornitza Stark gene: PRPH2 was added gene: PRPH2 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list Mode of inheritance for gene: PRPH2 was set to |
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