AP4B1

adaptor related protein complex 4 beta 1 subunit
OMIM: 607245
PanelMode of inheritanceDetails
5 panels
R-numbers: R60
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 47, autosomal recessive, OMIM:614066, Hereditary spastic paraplegia 47, MONDO:0013551
R-numbers: R61
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 47, autosomal recessive, OMIM:614066, Hereditary spastic paraplegia 47, MONDO:0013551
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5 614066
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 47, autosomal recessive, OMIM:614066, Hereditary spastic paraplegia 47, MONDO:0013551
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 47, autosomal recessive, OMIM:614066, Hereditary spastic paraplegia 47, MONDO:0013551