Hereditary Spastic Paraplegia - paediatric
Gene: PI4KAEnsemblGeneIds (GRCh38): ENSG00000241973
EnsemblGeneIds (GRCh37): ENSG00000241973
OMIM: 600286, Gene2Phenotype
PI4KA is in 8 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 84, autosomal recessive, MIM# 619621
Chirag Patel (Genetic Health Queensland)
Used WES/WGS to identify 10 unrelated patients harbouring biallelic variants in PI4KA, and a spectrum of severe global neurodevelopmental delay, hypomyelination, and developmental brain abnormalities, and pure spastic paraplegia. Some patients presented immunological deficits or genito-urinary abnormalities. Western blotting and immunofluorescence showed decreased PI4KA levels in the patients' fibroblasts. Immunofluorescence and targeted lipidomics indicated that PI4KA activity was diminished in fibroblasts and peripheral blood mononuclear cells.
Sources: LiteratureCreated: 30 Aug 2021, 10:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental syndrome with hypomyelinating leukodystrophy
Publications
- PMID: 34415322
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Neurodevelopmental syndrome with hypomyelinating leukodystrophy
- Spastic paraplegia 84, autosomal recessive, MIM# 619621
- OMIM
- 600286
- Clinvar variants
- Variants in PI4KA
- Penetrance
- None
- Publications
-
- PMID: 34415322
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PI4KA were changed from Neurodevelopmental syndrome with hypomyelinating leukodystrophy to Neurodevelopmental syndrome with hypomyelinating leukodystrophy; Spastic paraplegia 84, autosomal recessive, MIM# 619621
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pi4ka has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: pi4ka has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: PI4KA was added gene: PI4KA was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PI4KA were set to PMID: 34415322 Phenotypes for gene: PI4KA were set to Neurodevelopmental syndrome with hypomyelinating leukodystrophy Review for gene: PI4KA was set to GREEN