Genomics England
GMS Panels
Panels
Genes and Entities

PPIL1

peptidylprolyl isomerase like 1
OMIM: 601301
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly