MTPAP

mitochondrial poly(A) polymerase
OMIM: 613669
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Spastic ataxia 4, autosomal recessive 613672
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Spastic ataxia 4, autosomal recessive 613672
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Spastic ataxia 4, autosomal recessive, 613672