Albinism or congenital nystagmus
Gene: BLOC1S5The 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
This is a newly described gen association and should be considered for inclusion in the Albinism panel
Sources: NHS GMSCreated: 25 Jan 2021, 4:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome
Publications
Tag for-review was removed from gene: BLOC1S5.
Source Expert Review Green was added to BLOC1S5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: bloc1s5 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: BLOC1S5.
Phenotypes for gene: BLOC1S5 were changed from Hermansky-Pudlak syndrome to Hermansky-Pudlak syndrome, MONDO:0019312
Publications for gene: BLOC1S5 were set to PMID 32565547
gene: BLOC1S5 was added gene: BLOC1S5 was added to Albinism or congenital nystagmus. Sources: NHS GMS Mode of inheritance for gene: BLOC1S5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLOC1S5 were set to PMID 32565547 Phenotypes for gene: BLOC1S5 were set to Hermansky-Pudlak syndrome Penetrance for gene: BLOC1S5 were set to Complete Review for gene: BLOC1S5 was set to GREEN