Limb disorders
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
2 reviews
Eleanor Williams (Genomics England Curator)
Comment when marking as ready: No evidence that this gene is associated with limb disorders.Created: 29 Nov 2018, 1:23 p.m.
Checked with VCGS. They were not sure why this gene had been included in their list of polydactyly genes. So keep red rating.Created: 29 Nov 2018, 1:22 p.m.
Sarah Leigh (Genomics England Curator)
No apparent association with Limb disorders in OMIM, G2P or in the literature. Contact VCGS for evidence the presence of this gene on the panel.Created: 7 Nov 2018, 1:26 p.m.
Mode of inheritance
Unknown
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Polydactyly
- OMIM
- 603197
- Clinvar variants
- Variants in PNPLA6
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy
- Limb disorders
- DDG2P
- Intellectual disability
- 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
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
11 Dec 2018, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Sarah Leigh: No apparent association with L
29 Nov 2018, Gel status: 1
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: pnpla6 has been classified as Red List (Low Evidence).
7 Nov 2018, Gel status: 1
Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)Source Expert Review Red was added to PNPLA6. Mode of inheritance for gene PNPLA6 was changed from to Unknown
13 Aug 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PNPLA6 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
13 Aug 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)PNPLA6 was created by Ellen McDonagh