Albinism or congenital nystagmusGene: BLOC1S3
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases of affected patients with variants in this gene. Therefore, there is enough evidence to support a gene-disease assocation. This gene should be promoted to Green status at the next review.
Created: 26 Jan 2021, 10:51 a.m. | Last Modified: 26 Jan 2021, 10:51 a.m.
Panel Version: 1.15
Limited evidence available. Comments from HGMDpro: Only 4 variants in total (1 nonsense, 2 frameshift, 1 deletion of 24bp); 2 of these have Hermansky-Pudlak syndrome and 2 of these have albinism as the reported phenotype
Created: 20 Mar 2019, 4:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Hermansky-Pudlak syndrome 8 614077 AR
Publications for gene: BLOC1S3 were set to
Tag for-review tag was added to gene: BLOC1S3.
Phenotypes for gene: BLOC1S3 were changed from Hermansky-Pudlak syndrome 8 614077 AR to Hermansky-Pudlak syndrome 8, OMIM:614077, MONDO:0013560
Source Expert Review Amber was added to BLOC1S3. Added phenotypes Hermansky-Pudlak syndrome 8 614077 AR for gene: BLOC1S3 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: BLOC1S3 was added gene: BLOC1S3 was added to Albinism or congenital nystagmus. Sources: NHS GMS Mode of inheritance for gene: BLOC1S3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLOC1S3 were set to Hermansky-Pudlak syndrome 8 614077 AR