Congenital nystagmus

Gene: PRPH2

Green List (high evidence)

At least 3 families reported with bi-allelic variants and the severe LCA phenotype which has nystagmus as a feature.

Mono-allelic variants are associated with RP and other retinal disorders.

Created: 26 Oct 2021, 6:32 a.m. | Last Modified: 26 Oct 2021, 6:32 a.m.

Panel Version: 0.93

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 18 MIM#608133

Publications

• 33712029

Green List (high evidence)

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.

Created: 25 Oct 2021, 11:53 p.m. | Last Modified: 25 Oct 2021, 11:58 p.m.

Panel Version: 0.89

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

• 23847139
• 25447119
• 1684223

Variants in this GENE are reported as part of current diagnostic practice