Hereditary Neuropathy - complex
Gene: PNPLA6EnsemblGeneIds (GRCh38): ENSG00000032444
EnsemblGeneIds (GRCh37): ENSG00000032444
OMIM: 603197, Gene2Phenotype
PNPLA6 is in 17 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Well established gene-disease association with a few conditions relevant to the gene with neuropathy as a feature.
LoF is the established mode of pathogenesis.
Laurence-Moon Syndrome (LMS) is similar to Oliver-McFarlane syndrome but with childhood onset of peripheral neuropathy. Spastic Paraplegia Type 39 also known as NTE-related motor neurone disease.Created: 8 Aug 2023, 4:17 a.m. | Last Modified: 8 Aug 2023, 4:17 a.m.
Panel Version: 0.215
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Laurence-Moon Syndrome (LMS) MIM#245800; Spastic Paraplegia Type 39 MIM#612020
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Laurence-Moon Syndrome (LMS) MIM#245800
- Spastic Paraplegia Type 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 Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PNPLA6 were changed from progressive distal motor neuropathy beginning in early through late adolescence; Hereditary Neuropathies; Childhood onset of slowly progressive spastic paraplegia to Laurence-Moon Syndrome (LMS) MIM#245800; Spastic Paraplegia Type 39 MIM#612020
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PNPLA6 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PNPLA6 was added gene: PNPLA6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA6 were set to progressive distal motor neuropathy beginning in early through late adolescence; Hereditary Neuropathies; Childhood onset of slowly progressive spastic paraplegia