Albinism or congenital nystagmus

Gene: BLOC1S5

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 3 Mar 2022, 4:42 p.m. | Last Modified: 3 Mar 2022, 4:42 p.m.

Panel Version: 1.22

Comment on list classification: New gene added by Simon Ramsden (NHS). This gene is not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 32565547 describes 2 unrelated cases of patients with homozygous variants in BLOC1S5. Patients had mild oculocutaneous albinism, moderate bleeding diathesis, platelet aggregation deficit, and a dramatically decreased number of platelet dense granules. The paper also includes a mouse model.

Based on the available information there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.

Created: 26 Jan 2021, 10:24 a.m. | Last Modified: 26 Jan 2021, 10:24 a.m.

Panel Version: 1.13

Green List (high evidence)

This is a newly described gen association and should be considered for inclusion in the Albinism panel
Sources: NHS GMS

Created: 25 Jan 2021, 4:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome

Publications

• PMID 32565547