AP4E1

adaptor related protein complex 4 epsilon 1 subunit
OMIM: 607244
PanelMode of inheritanceDetails
5 panels
R-numbers: R61
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 51, autosomal recessive, OMIM:613744, Hereditary spastic paraplegia 51, MONDO:0013401
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 613744
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 51, autosomal recessive, OMIM:613744, Hereditary spastic paraplegia 51, MONDO:0013401
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 51, autosomal recessive, OMIM:613744, Hereditary spastic paraplegia 51, MONDO:0013401
R-numbers: R88
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 51, autosomal recessive, OMIM:613744, Hereditary spastic paraplegia 51, MONDO:0013401