Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

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 11 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for HERMANSKY-PUDLAK SYNDROME 9
Created: 11 Dec 2018, 9:04 a.m.

History Filter Activity

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: BLOC1S6 was added gene: BLOC1S6 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLOC1S6 were set to HERMANSKY-PUDLAK SYNDROME 9