Congenital nystagmus

Gene: MYO5A

Green List (high evidence)

Griscelli syndrome (GS) is characterized by partial albinism, neurologic abnormalities and/or immune defects.

It can be categorised into 3 types; type 1: primary dysfunction of central nervous system, type 2: associated with an immune defect and type3: restricted to hypopigmentation without any immunologic or neurologic manifestations

At least 10 families reported with variants in MYO5A, mostly for type 1 but 2,439-bp deletion spanning the entire F-exon has been reported in type 3 patients.

Created: 30 Jan 2022, 11:48 p.m. | Last Modified: 30 Jan 2022, 11:48 p.m.

Panel Version: 0.10812

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Griscelli syndrome, type 1 MIM#214450

Publications

• 32275080
• 22711375
• 25283056

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

I don't know

Partial albinism affecting skin and hair. However, this type of Griscelli syndrome has neurological involvement which results in roving eye movements. Rated Amber due to phenotypic overlap with Hermansky Pudlak syndrome and OCA.

Created: 27 Oct 2021, 7:49 a.m. | Last Modified: 27 Oct 2021, 7:49 a.m.

Panel Version: 0.159

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Griscelli syndrome, type 1, MIM# 214450

Publications

• 32275080
• 33981514
• 22711375