AP4B1

adaptor related protein complex 4 beta 1 subunit
OMIM: 607245
PanelMode of inheritanceDetails
3 panels
R-numbers: R60
Signed-off version 1.27
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 47, autosomal recessive, OMIM:614066, Hereditary spastic paraplegia 47, MONDO:0013551
R-numbers: R61
Signed-off version 2.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 47, autosomal recessive, 614066
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 47, autosomal recessive, 614066, CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5