Paediatric pseudo-obstruction syndrome
Gene: POLG
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
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
Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662
Publications for gene: POLG were set to
Mode of inheritance for gene: POLG was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: polg has been classified as Green List (High Evidence).
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