Hereditary ataxia with onset in adulthood
Gene: PNPLA6EnsemblGeneIds (GRCh38): ENSG00000032444
EnsemblGeneIds (GRCh37): ENSG00000032444
OMIM: 603197, Gene2Phenotype
PNPLA6 is in 17 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
In Oxford and Sheffield panels. 53 DM on HGMD of which 6 cause cerebellar ataxia (Boucher-Neuhuser syndrome). Likely overlap with HSP panel is justified.Created: 27 Apr 2019, 7:39 p.m.
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Associated with a spectrum of disease, all associated with cerebellar abnormalities and/or ataxiaCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Boucher-Neuhauser syndrome, 215470, Oliver-McFarlane syndrome, 275400, Sapstic paraplegia 39, 612020
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- Phenotypes
-
- Sapstic paraplegia 39, 612020
- Oliver-McFarlane syndrome, 275400
- Boucher-Neuhauser syndrome, 215470
- Oliver-McFarlane syndrome (#603197)
- Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470)
- Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients
- OMIM
- 603197
- Clinvar variants
- Variants in PNPLA6
- Penetrance
- None
- Panels with this gene
-
- Limb disorders
- Hereditary neuropathy
- DDG2P
- Monogenic short stature
- Adult onset neurodegenerative disorder
- Retinal disorders
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- IUGR and IGF abnormalities
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Pituitary hormone deficiency
- Hereditary neuropathy or pain disorder
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to PNPLA6.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Boucher-Neuhauser syndrome, 215470; Sapstic paraplegia 39, 612020; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PNPLA6.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to PNPLA6.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: PNPLA6 was added gene: PNPLA6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA6 were set to Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470); Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients; Oliver-McFarlane syndrome (#603197)