Albinism or congenital nystagmusGene: BLOC1S6
Limited evidence available. Comments from OMIM: Only one patient is recorded. Comments from HGMDpro: Only 2 variants in total (nonsense and frameshift); both of these has Hermansky-Pudlak syndrome as the reported phenotype; two different authors
Created: 20 Mar 2019, 4:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
?Hermansky-pudlak syndrome 9 614171 AR
Source Expert Review Amber was added to BLOC1S6. Added phenotypes ?Hermansky-pudlak syndrome 9 614171 AR for gene: BLOC1S6 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: BLOC1S6 was added gene: BLOC1S6 was added to Albinism or congenital nystagmus. Sources: NHS GMS Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLOC1S6 were set to ?Hermansky-pudlak syndrome 9 614171 AR