Early-onset Parkinson disease
Gene: PNPLA6EnsemblGeneIds (GRCh38): ENSG00000032444
EnsemblGeneIds (GRCh37): ENSG00000032444
OMIM: 603197, Gene2Phenotype
PNPLA6 is in 17 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Parkinsonism is a part of the phenotype in at least 2 families, both compound hets including the same missense variant (PNPLA6 c.4003C>T p.Pro1335Ser).
Sources: LiteratureCreated: 25 Sep 2024, 5:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PNPLA6-related spastic paraplegia with or without ataxia MONDO:0100149
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- PNPLA6-related spastic paraplegia with or without ataxia MONDO:0100149
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: pnpla6 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pnpla6 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PNPLA6 was added gene: PNPLA6 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA6 were set to 32623594; 36825042 Phenotypes for gene: PNPLA6 were set to PNPLA6-related spastic paraplegia with or without ataxia MONDO:0100149 Review for gene: PNPLA6 was set to AMBER