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Hereditary neuropathy or pain disorder v6.148 POLG Sarah Leigh Tag Q3_24_promote_green was removed from gene: POLG.
Tag Q3_24_NHS_review was removed from gene: POLG.
Hereditary neuropathy or pain disorder v6.148 POLG Sarah Leigh reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.147 POLG Sarah Leigh Source Expert Review Green was added to POLG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v6.124 POLG Achchuthan Shanmugasundram Classified gene: POLG as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.124 POLG Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexander Rossor, peripheral neuropathy is a well-established feature of POLG disease and hence this gene should be promoted to green rating in the next GMS update.
Hereditary neuropathy or pain disorder v6.124 POLG Achchuthan Shanmugasundram Gene: polg has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.123 POLG Achchuthan Shanmugasundram Phenotypes for gene: POLG were changed from sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO); Mitochondrial DNA depletion syndrome 4A (Alpers type); Cardiomyopathy; Progressive external ophthalmoplegia, autosomal recessive 1; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Mitochondrial DNA depletion syndrome 4B (MNGIE type) to Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459; Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640; Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450
Hereditary neuropathy or pain disorder v6.122 POLG Achchuthan Shanmugasundram Publications for gene: POLG were set to
Hereditary neuropathy or pain disorder v6.121 POLG Achchuthan Shanmugasundram edited their review of gene: POLG: Changed publications to: 12975295, 15534189, 19752458, 25281868, 33791913, 36703500, 38975049
Hereditary neuropathy or pain disorder v6.121 POLG Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: POLG.
Tag Q3_24_NHS_review tag was added to gene: POLG.
Hereditary neuropathy or pain disorder v6.121 POLG Achchuthan Shanmugasundram changed review comment from: PMID:25281868 reported 116 patients with genetically-defined mitochondrial disease and progressive external ophthalmoplegia, of which 16 patients had a large-fibre peripheral neuropathy. Eight of them were identified with biallelic PLOG variants and one of them was identified with POLG monoallelic variant.

PMID:33791913 reported a patient with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) and was identified with two novel missense variants. A systematic review of previous literature in this publication summarised a total of 35 distinct variants from POLG are reported in 63 patients with SANDO. All of them had the variants either in homozygous or compound heterozygous state.

PMID:36703500 reported gait disturbance related to sensory ataxia and oculomotor abnormalities in four patients with biallelic POLG variants. They all had sensory axonal neuropathy.

PMID:38975049 reported a retrospective study of 40 children carrying biallelic pathogenic POLG variants, of which sensorimotor axonal neuropathy was present in eight children (20%) and polyradiculoneuropathy was present in six children (15%).


; to: PMID:12975295 reported four unrelated patients with progressive external ophthalmoplegia (PEO) and with POLG variants. Of three patients with heterozygous variants, one had neuropathy and the only patient with compound heterozygous variants also had neuropathy.

PMID:15534189 reported a family with monoallelic missense variant in POLG gene and with progressive external ophthalmoplegia, neuropathy, hypogonadism, and parkinsonism.

PMID:19752458 reported 26 patients from 23 families with cerebellar ataxia plus sensory neuropathy or external ophthalmoplegia. Of these 15 patients from 11 families were identified with POLG variants, of which four patients from two families had heterozygous variants and 11 patients from nine families had either homozygous or compound heterozygous variants.

PMID:25281868 reported 116 patients with genetically-defined mitochondrial disease and progressive external ophthalmoplegia, of which 16 patients had a large-fibre peripheral neuropathy. Eight of them were identified with biallelic PLOG variants and one of them was identified with POLG monoallelic variant.

PMID:33791913 reported a patient with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) and was identified with two novel missense variants. A systematic review of previous literature in this publication summarised a total of 35 distinct variants from POLG are reported in 63 patients with SANDO. All of them had the variants either in homozygous or compound heterozygous state.

PMID:36703500 reported gait disturbance related to sensory ataxia and oculomotor abnormalities in four patients with biallelic POLG variants. They all had sensory axonal neuropathy.

PMID:38975049 reported a retrospective study of 40 children carrying biallelic pathogenic POLG variants, of which sensorimotor axonal neuropathy was present in eight children (20%) and polyradiculoneuropathy was present in six children (15%).

Both monoallelic and biallelic variants of this gene are associated with relevant phenotypes in OMIM and Gene2Phenotype (DD and eye panels) and OMIM records neuropathy as a clinical presentation of all but one phenotypes.
Hereditary neuropathy or pain disorder v6.118 POLG Achchuthan Shanmugasundram edited their review of gene: POLG: Changed publications to: 12975295, 25281868, 33791913, 36703500, 38975049; Changed phenotypes to: Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459, Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640, Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450
Hereditary neuropathy or pain disorder v6.118 POLG Achchuthan Shanmugasundram edited their review of gene: POLG: Changed publications to: 25281868, 33791913, 36703500, 38975049; Changed phenotypes to: Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459'
Hereditary neuropathy or pain disorder v6.118 POLG Achchuthan Shanmugasundram changed review comment from: PMID:25281868 reported 116 patients with genetically-defined mitochondrial disease and progressive external ophthalmoplegia, of which 16 patients had a large-fibre peripheral neuropathy. Eight of them were identified with biallelic PLOG variants and one of them was identified with POLG monoallelic variant.

PMID:33791913 reported a patient with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) and was identified with two novel missense variants. A systematic review of previous literature in this publication summarised a total of 35 distinct variants from POLG are reported in 63 patients with SANDO. All of them had the variants either in homozygous or compound heterozygous state.; to: PMID:25281868 reported 116 patients with genetically-defined mitochondrial disease and progressive external ophthalmoplegia, of which 16 patients had a large-fibre peripheral neuropathy. Eight of them were identified with biallelic PLOG variants and one of them was identified with POLG monoallelic variant.

PMID:33791913 reported a patient with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) and was identified with two novel missense variants. A systematic review of previous literature in this publication summarised a total of 35 distinct variants from POLG are reported in 63 patients with SANDO. All of them had the variants either in homozygous or compound heterozygous state.

PMID:36703500 reported gait disturbance related to sensory ataxia and oculomotor abnormalities in four patients with biallelic POLG variants. They all had sensory axonal neuropathy.

PMID:38975049 reported a retrospective study of 40 children carrying biallelic pathogenic POLG variants, of which sensorimotor axonal neuropathy was present in eight children (20%) and polyradiculoneuropathy was present in six children (15%).
Hereditary neuropathy or pain disorder v6.115 POLG Achchuthan Shanmugasundram reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 25281868; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 POLG Alexander Rossor edited their review of gene: POLG: Added comment: Now R78 includes complex phenotypes this needs to be included as PN well established in POLG disease; Changed publications to: 36703500 : 33791913: 25281868: 38975049; Changed phenotypes to: peripheral neuropathy, CPEO
Hereditary neuropathy or pain disorder v0.64 POLG Louise Daugherty Classified gene: POLG as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.64 POLG Louise Daugherty Added comment: Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)
Hereditary neuropathy or pain disorder v0.64 POLG Louise Daugherty Gene: polg has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.63 POLG Louise Daugherty commented on gene: POLG: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.1 POLG Ellen McDonagh gene: POLG was added
gene: POLG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,Expert Review Green
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO); Mitochondrial DNA depletion syndrome 4A (Alpers type); Cardiomyopathy; Progressive external ophthalmoplegia, autosomal recessive 1; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Mitochondrial DNA depletion syndrome 4B (MNGIE type)