Cerebral Palsy
Gene: PNPLA6EnsemblGeneIds (GRCh38): ENSG00000032444
EnsemblGeneIds (GRCh37): ENSG00000032444
OMIM: 603197, Gene2Phenotype
PNPLA6 is in 17 panels
1 review
Luisa Weiss (University of Adelaide)
2 case reports of patients initially reported as having CP but later re-diagnosed as having spastic paraplegia Type 39 due to biallelic PNPLA6 mutations. Significant phenotypic overlap with HSP 39: childhood onset of potentially very slowly progressive motor disease
Sources: LiteratureCreated: 25 Jul 2023, 5:17 a.m. | Last Modified: 25 Jul 2023, 5:18 a.m.
Panel Version: 1.133
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Boucher-Neuhauser syndrome MIM#215470; Oliver-McFarlane syndrome MIM#275400; Spastic paraplegia 39 MIM#612020
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Spastic paraplegia 39 MIM#612020
- OMIM
- 603197
- Clinvar variants
- Variants in PNPLA6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Prepair 1000+
- Hereditary Neuropathy - complex
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Early-onset Parkinson disease
- Regression
- Hereditary Spastic Paraplegia - adult onset
- Fetal anomalies
- Ataxia - adult onset
- Mendeliome
- Syndromic Retinopathy
- Hereditary Spastic Paraplegia - paediatric
- Ataxia - paediatric
- Growth failure
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pnpla6 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PNPLA6 were changed from Boucher-Neuhauser syndrome MIM#215470; Oliver-McFarlane syndrome MIM#275400; Spastic paraplegia 39 MIM#612020 to Spastic paraplegia 39 MIM#612020
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pnpla6 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: PNPLA6 was added gene: PNPLA6 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA6 were set to 34816117; 34364746 Phenotypes for gene: PNPLA6 were set to Boucher-Neuhauser syndrome MIM#215470; Oliver-McFarlane syndrome MIM#275400; Spastic paraplegia 39 MIM#612020 Review for gene: PNPLA6 was set to AMBER