PPIL1

peptidylprolyl isomerase like 1
OMIM: 601301
PanelMode of inheritanceDetails
3 panels
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
R-numbers: R88
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly