Infantile nystagmus
Gene: GPR143Comment on list classification: Expert review greenCreated: 19 Dec 2016, 3:52 p.m.
Patients with GPR143 mutations would be expected to have features of albinism (such as asymmetric VEP, foveal hypoplasia etc) however in children often the electrodiagnostic testing can be inconclusive therefore nystagmus might be the only feature detectable on clinical examination.Created: 28 Nov 2016, 8:18 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Ocular albinism, type I
Publications
Comment on list classification: Gene found in 2/4 original sources, and rated green by expert reviewer. More than 3 cases/families reported in OMIM for different variants in patients with Ocular albinism, type I, Nettleship-Falls type.Created: 5 Sep 2016, 12:58 p.m.
Phenotypes
oculo-cutaneous albinism
Variants in this GENE are reported as part of current diagnostic practice
21/Dec/2016: panel revised according to expert review, addition of green genes from the Ocular and oculo-cutaneous albinism (Version 1.1) gene panel and further curation.
Phenotypes for GPR143 were set to Ocular albinism, type I, Nettleship-Falls type, 300500; Nystagmus 6, congenital, X-linked, 300814;Ocular albinism, type I
Publications for GPR143 were set to 26160353; 26061757; 21423867; 21541274
Model of inheritance for gene GPR143 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
GPR143 was created by ellenmcdonagh
GPR143 was added to Infantile nystagmuspanel. Sources: Radboud University Medical Center, Nijmegen