Arthrogryposis
Gene: POLG
POLG (DNA polymerase gamma, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Not associated with arthrogryposisCreated: 22 Dec 2016, 3:54 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- OMIM
- 174763
- Clinvar variants
- Variants in POLG
- Penetrance
- Complete
- Panels with this gene
-
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial DNA maintenance disorder
- Acute rhabdomyolysis
- Hereditary ataxia with onset in adulthood
- DDG2P
- Primary ovarian insufficiency
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Gastrointestinal neuromuscular disorders
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Fetal anomalies
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Adult onset neurodegenerative disorder
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Paediatric pseudo-obstruction syndrome
- Optic neuropathy
- Hereditary neuropathy
- White matter disorders and cerebral calcification - narrow panel
- POLG-related disorder
- Mitochondrial liver disease, including transient infantile liver failure
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Hereditary ataxia
- Mitochondrial disorders
- Rhabdomyolysis and metabolic muscle disorders
- Cholestasis
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Arthrogryposis
- Neonatal cholestasis
History Filter Activity
16 Jan 2017, Gel status: 1
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
22 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)POLG was created by ellenmcdonagh
21 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)POLG was added to Arthrogryposispanel. Sources: Expert list