Ocular and Oculocutaneous Albinism
Gene: GPR143
Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, albinotic fundus, macular hypoplasia, and normally pigmented skin and hair. Carrier females usually have punctate iris translucency and a mottled pattern of fundus pigmentation. In contrast to Caucasian patients, black or Japanese patients with OA1 often have brown irides with little or no translucency and varying degrees of fundus hypopigmentation, the so-called 'nonalbinotic fundus'.
Well established gene-disease association.Created: 4 Jun 2021, 7:56 a.m. | Last Modified: 4 Jun 2021, 7:56 a.m.
Panel Version: 0.38
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Ocular albinism, type I, Nettleship-Falls type, MIM# 300500; MONDO:0021019
Publications
X-linked condition generally affect males, het female exhibit some mosaicism due to X linked inactivation (PMID: 29761529).
No clear genotype-phenotype correlation.Created: 27 May 2020, 5:31 a.m. | Last Modified: 27 May 2020, 5:31 a.m.
Panel Version: 0.2909
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
congenital nystagmus 6, MIM 300814; ty[e I ocular albinism, Nettleship-Falls type, MIM 300500
Publications
Gene: gpr143 has been classified as Green List (High Evidence).
Phenotypes for gene: GPR143 were changed from to Ocular albinism, type I, Nettleship-Falls type, MIM# 300500; MONDO:0021019
Publications for gene: GPR143 were set to
Mode of inheritance for gene: GPR143 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
gene: GPR143 was added gene: GPR143 was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GPR143 was set to Unknown