BabyScreen+ newborn screening

Gene: TYR

Red List (low evidence)

Diagnosis is clinical. Treatment is supportive.

Created: 7 Nov 2022, 6:49 a.m. | Last Modified: 9 Nov 2022, 6:51 a.m.

Panel Version: 0.866

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oculocutaneous albinism type 1 MIM## 203100, # 606952

I don't know

Strong gene disease association
Variable phenotype of albinism: absent iris and retinal pigment, foveal hypoplasia, refractive errors
congenital onset with absent tyrisonase activity, residual tryrisonase activity can result in very mild phenotype.
Visual acuity variable - can be mildly reduced (20/60) to significantly (20/400)
Treatment supportive: Glasses (possibly bifocals) and dark glasses or photocromic lenses may offer sufficient help for reduced visual activity and photophobia and regular skin checks.

Not severe or treatable enough? Put as orange just to confirm we are happy excluding all the OCA genes? Alison opinion?

Created: 4 Nov 2022, 2:58 a.m. | Last Modified: 4 Nov 2022, 2:58 a.m.

Panel Version: 0.801

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oculocutaneous albinism type 1 MIM## 203100, # 606952

Publications

• PMID: 17980020, PMID: 33599182