Genomics England
GMS Panels
Panels
Genes and Entities

BORCS8

BLOC-1 related complex subunit 8
OMIM: 616601
PanelMode of inheritanceDetails
1 panel
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease