AMPD2

adenosine monophosphate deaminase 2
OMIM: 102771
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014)., pontocerebellar hypoplasia type 9, 615809, Pontocerebellar hypoplasia 9 (#615809)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PONTOCEREBELLAR HYPOPLASIA
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 9 615809
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PONTOCEREBELLAR HYPOPLASIA
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
PONTOCEREBELLAR HYPOPLASIA, Pontocerebellar hypoplasia, type 9, 615809