Genomics England
GMS Panels
Panels
Genes and Entities

AP4B1

adaptor related protein complex 4 beta 1 subunit
OMIM: 607245
PanelMode of inheritanceDetails
4 panels
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
Signed-off version 3.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 47, autosomal recessive, OMIM:614066, Hereditary spastic paraplegia 47, MONDO:0013551
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 47, autosomal recessive, OMIM:614066, Hereditary spastic paraplegia 47, MONDO:0013551
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
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 White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 47, autosomal recessive, OMIM:614066, Hereditary spastic paraplegia 47, MONDO:0013551