PPIL1

peptidylprolyl isomerase like 1
OMIM: 601301, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PPIL1 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.315
Latest signed off version: v2.2 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Green PPIL1 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.558
Latest signed off version: v2.2 (13 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Green PPIL1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1651
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly