AP4S1

adaptor related protein complex 4 sigma 1 subunit
OMIM: 607243
PanelMode of inheritanceDetails
3 panels
R-numbers: R60
Signed-off version 1.27
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
developmental delay, seizures, Spastic paraplegia 52, autosomal recessive, 614067
R-numbers: R61
Signed-off version 2.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
developmental delay, seizures, Spastic paraplegia 52, autosomal recessive, 614067
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 52, autosomal recessive, 614067, CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6