Genomics England
GMS Panels
Panels
Genes and Entities

PITRM1

pitrilysin metallopeptidase 1
PanelMode of inheritanceDetails
2 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 4.40
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia, Intellectual disability
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405