Genomics England
GMS Panels
Panels
Genes and Entities
AP1B1
adaptor related protein complex 1 beta 1 subunit
OMIM:
600157
See this entity in PanelApp
Panel
Mode of inheritance
Details
Filter panels
1 panel
Green
in
DDG2P
Component of the following Super Panels:
- Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MEDNIK-like Syndrome