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
-
- Cholestasis
- Primary ovarian insufficiency
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- Fetal anomalies
- Neurodegenerative disorders, adult onset
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Bilateral congenital or childhood onset cataracts
- Mitochondrial DNA maintenance disorder
- DDG2P
- Paediatric pseudo-obstruction syndrome
- Ataxia and cerebellar anomalies - childhood onset
- Undiagnosed metabolic disorders
- POLG-related disorder
- Hyperammonaemia
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Rhabdomyolysis and metabolic muscle disorders
- Possible mitochondrial disorder, nuclear genes
- Arthrogryposis
- Hereditary neuropathy or pain disorder
- Optic neuropathy
- Intellectual disability
- Neonatal cholestasis
- Hereditary ataxia, adult onset
- Acute rhabdomyolysis
- Mitochondrial liver disease
- Mitochondrial disorders
- White matter disorders and cerebral calcification - childhood onset
- Likely inborn error of metabolism
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