Cholestasis
Gene: POLGEnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
2 reviews
Miranda Durkie (Genetics)
PMID: 20142534 - patients 1 and 4 have cholestatic liver disease
PMID: 33720099 Use of a Comprehensive 66-Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults. The top five genetic diagnoses for the group, in order: JAG1 + NOTCH2 (Alagille syndrome), ABCB11, SERPINA1, ABCB4, and POLG.
PMID: 17682973 Review of liver disease in mitochondrial disorders
Recognised presentation agree to green ratingCreated: 20 Jan 2022, 1:10 p.m. | Last Modified: 20 Jan 2022, 1:10 p.m.
Panel Version: 1.103
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.
Panel Version: 1.105
This gene has been added to this panel as it is Green on the Neonatal cholestasis panel (v1.16). It has been given an Amber review and awaiting feedback from GMS about whether this gene should be promoted to Green status or not.Created: 18 Nov 2020, 4:01 p.m. | Last Modified: 18 Nov 2020, 4:01 p.m.
Panel Version: 1.74
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700, MONDO:0008758
- OMIM
- 174763
- Clinvar variants
- Variants in POLG
- Penetrance
- None
- Panels with this gene
-
- Paediatric pseudo-obstruction syndrome
- Hereditary ataxia with onset in adulthood
- Primary ovarian insufficiency
- Likely inborn error of metabolism
- Gastrointestinal neuromuscular disorders
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Rhabdomyolysis and metabolic muscle disorders
- Inherited white matter disorders
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy
- Arthrogryposis
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Bilateral congenital or childhood onset cataracts
- Adult onset neurodegenerative disorder
- Mitochondrial liver disease, including transient infantile liver failure
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- Acute rhabdomyolysis
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Hyperammonaemia
- Hereditary ataxia
- Cholestasis
- Fetal anomalies
- Optic neuropathy
- POLG-related disorder
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Neonatal cholestasis
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
Removed Tag, Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: POLG. Tag Q1_22_NHS_review was removed from gene: POLG.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to POLG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag Q1_22_NHS_review tag was added to gene: POLG.
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: POLG.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: POLG was added gene: POLG was added to Cholestasis. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700, MONDO:0008758