AP4E1

adaptor related protein complex 4 epsilon 1 subunit
OMIM: 607244
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 613744
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 51, autosomal recessive, OMIM:613744, Hereditary spastic paraplegia 51, MONDO:0013401
R-numbers: R60
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 51, autosomal recessive, OMIM:613744, Hereditary spastic paraplegia 51, MONDO:0013401
R-numbers: R61
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 51, autosomal recessive, OMIM:613744, Hereditary spastic paraplegia 51, MONDO:0013401
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 51, autosomal recessive, OMIM:613744, Hereditary spastic paraplegia 51, MONDO:0013401
R-numbers: R88
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 51, autosomal recessive, OMIM:613744, Hereditary spastic paraplegia 51, MONDO:0013401