Genomics England
GMS Panels
Panels
Genes and Entities

ABHD16A

abhydrolase domain containing 16A
OMIM: 142620
PanelMode of inheritanceDetails
4 panels
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia, Intellectual disability
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ABHD16A-associated spastic paraplegia, intellectual disability and thin corpus callosum
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia, Intellectual disability
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia, Intellectual disability