Genomics England
GMS Panels
Panels
Genes and Entities

BLOC1S1

biogenesis of lysosomal organelles complex 1 subunit 1
OMIM: 601444
PanelMode of inheritanceDetails
2 panels
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
severe intellectual disability, severe global developmental delay, epilepsy
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
severe intellectual disability, severe global developmental delay, epilepsy