BabyScreen+ newborn screening

Gene: OCA2

Red List (low evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Albinism, brown oculocutaneous, MIM# 203200; Albinism, oculocutaneous, type II, MIM# 203200

Red List (low evidence)

Gene-disease association: strong. Tyrosinase-positive oculocutaneous albinism (OCA, type II) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have OCA type I, or complete absence of melanin pigment, most patients with OCA type II acquire small amounts of pigment with age. Individuals with OCA type II have the characteristic visual anomalies associated with albinism, including decreased acuity and nystagmus, which are usually less severe than in OCA type I

Severity: moderate

Age of onset: birth

Non-molecular confirmatory testing: no

Treatment: symptomatic only therefore exclude

Created: 6 Oct 2022, 2:27 a.m. | Last Modified: 6 Oct 2022, 2:27 a.m.

Panel Version: 0.418

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Albinism, oculocutaneous, type II