Ataxia and cerebellar anomalies - childhood onset
Gene: PNPLA6
PNPLA6 (patatin like phospholipase domain containing 6)
EnsemblGeneIds (GRCh38): ENSG00000032444
EnsemblGeneIds (GRCh37): ENSG00000032444
OMIM: 603197, Gene2Phenotype
PNPLA6 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000032444
EnsemblGeneIds (GRCh37): ENSG00000032444
OMIM: 603197, Gene2Phenotype
PNPLA6 is in 17 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470)
- Oliver-McFarlane syndrome (#603197)
- 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
- Retinal disorders
- Hereditary spastic paraplegia, childhood onset
- Hereditary ataxia, adult onset
- Hereditary spastic paraplegia, adult onset
- Pituitary hormone deficiency
- Hereditary ataxia
- Ataxia and cerebellar anomalies - childhood onset
- Hereditary neuropathy or pain disorder
- Neurodegenerative disorders, adult onset
- Hereditary spastic paraplegia
- Hereditary neuropathy
- IUGR and IGF abnormalities
- Dystonia, chorea or related movement disorder, childhood onset
- Intellectual disability
- DDG2P
- Monogenic short stature
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PNPLA6 was added gene: PNPLA6 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: 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); Oliver-McFarlane syndrome (#603197); Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients