Paediatric pseudo-obstruction syndrome
Gene: POLGEnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 32 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Comment on list classification: This gene should be rated GREEN as this gene is implicated in mitochondrial DNA depletion syndrome 4B (MNGIE type) from at least three unrelated cases.
Two patients carrying recessive missense variants (N846S, P587L & T251I) were reported with MNGIE, but no leukoencephalopathy (PMID:12825077). An infant boy with a multisystem disorder whose main clinical features were severe skeletal myopathy and visceral dysmotility was also identified with compound heterozygous variants (p.G848S & p.R227WQ) (PMID:19307547).
In a study by Tang et al, three unrelated patients carrying either homozygous (p.W748S and p.A467T) or compound heterozygous variants (p.W748S/ p.R953C) were reported with MNGIE-like phenotype (PMID:21993618).
This gene has been associated with multiple phenotypes in OMIM and G2P. However, it is associated with mitochondrial DNA depletion syndrome 4B (MNGIE type) only in OMIM.Created: 29 Dec 2022, 10:12 p.m. | Last Modified: 29 Dec 2022, 10:12 p.m.
Panel Version: 0.100
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662
Publications
Eleanor Williams (Genomics England Curator)
Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Mitochondrial depletion disorders (MNGIE, MELAS, myopathy, other). Protein function: DNA-polymerase gamma, Encodes for the catalytic subunit of the mitochondrial DNA. Other information: Submitted gene symbol: POLG1.Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Associated with mitochondrial depletion and deletions. Severe hypotonia and generalized muscle weakness, severe abdominal distension and hypoactive bowel
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662
- OMIM
- 174763
- Clinvar variants
- Variants in POLG
- Penetrance
- None
- Publications
- Panels with this gene
-
- Possible mitochondrial disorder, nuclear genes
- Cholestasis
- Primary ovarian insufficiency
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- DDG2P
- Ataxia and cerebellar anomalies - childhood onset
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Bilateral congenital or childhood onset cataracts
- Rhabdomyolysis and metabolic muscle disorders
- Mitochondrial DNA maintenance disorder
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Early onset or syndromic epilepsy
- Fetal anomalies
- Paediatric pseudo-obstruction syndrome
- Hereditary neuropathy or pain disorder
- Hereditary ataxia, adult onset
- Undiagnosed metabolic disorders
- POLG-related disorder
- Hyperammonaemia
- Hereditary ataxia
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Acute rhabdomyolysis
- Mitochondrial disorders
- Neonatal cholestasis
- Optic neuropathy
- Mitochondrial liver disease
- Arthrogryposis
- White matter disorders and cerebral calcification - childhood onset
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: POLG were set to
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene: POLG was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: polg has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: POLG was added gene: POLG was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: POLG was set to