Albinism or congenital nystagmus

Gene: BLOC1S6

Amber List (moderate evidence)

BLOC1S6 (biogenesis of lysosomal organelles complex 1 subunit 6)
EnsemblGeneIds (GRCh38): ENSG00000104164
EnsemblGeneIds (GRCh37): ENSG00000104164
OMIM: 604310, Gene2Phenotype
BLOC1S6 is in 8 panels

1 review

Jonathan Callaway (Wessex Regional Genetics Laboratory)

I don't know

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

Phenotypes
?Hermansky-pudlak syndrome 9 614171 AR

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Hermansky-pudlak syndrome 9 614171 AR
OMIM
604310
Clinvar variants
Variants in BLOC1S6
Penetrance
None
Panels with this gene

History Filter Activity

20 Mar 2019, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Ivone Leong (Genomics England Curator)

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)

20 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

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