Genomics England
GMS Panels
Panels
Genes and Entities
BORCS5
BLOC-1 related complex subunit 5
OMIM:
616598
See this entity in PanelApp
Panel
Mode of inheritance
Details
Filter panels
1 panel
Green
in
Fetal anomalies
R-numbers:
R21
,
R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis multiplex congenita, brain malformations