This Panel is marked as Deleted
Polydactyly Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 603197
- Clinvar variants
- Variants in PNPLA6
- Penetrance
- None
- Panels with this gene
-
- Retinal disorders
- Hereditary ataxia with onset in adulthood
- DDG2P
- Hereditary ataxia
- Limb disorders
- Childhood onset hereditary spastic paraplegia
- Pituitary hormone deficiency
- Intellectual disability
- Adult onset neurodegenerative disorder
- Hereditary neuropathy or pain disorder
- Monogenic short stature
- Hereditary spastic paraplegia
- IUGR and IGF abnormalities
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset hereditary spastic paraplegia
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)PNPLA6 was added to Polydactyly Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)PNPLA6 was created by Sarah Leigh