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Hereditary neuropathy or pain disorder v8.12 POLR3A Achchuthan Shanmugasundram edited their review of gene: POLR3A: Added comment: PMID:42260910 (2026) reported 11 patients from 8 unrelated families identified with heterozygous missense variants in POLR3A. The patients presented with an early-onset, progressive sensorimotor peripheral polyneuropathy with intermediate to demyelinating ranges of nerve conduction slowing, occasionally accompanied with neurological or non-neurological features. White matter abnormalities that are characteristic for the biallelic Pol III-related disorders were not observed in the brain magnetic resonance imaging.

Although biallelic variants in this gene has already been associated with phenotypes relevant for this panel on OMIM (MIM #607694, last accessed 26 July 2026) and ClinGen (with 'definitive; rating by Leukodystrophy and Leukoencephalopathy GCEP), monoallelic variants are not yet associated with relevant phenotypes in these resources.; Changed publications to: 42260910; Changed phenotypes to: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:607694, leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MONDO:0011897, peripheral neuropathy, MONDO:0005244; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.7 NEMF Arina Puzriakova Phenotypes for gene: NEMF were changed from Hypotonia; Axonal neuropathy; Ataxia; Abnormal brain imaging; Global developmental delay; Intellectual disability; Kyphosis; Scoliosis; Tremor; Respiratory distress to Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, OMIM:619099
Hereditary neuropathy or pain disorder v3.58 MAG Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: MAG.
Hereditary neuropathy or pain disorder v3.58 MAG Sarah Leigh reviewed gene: MAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v3.57 MAG Achchuthan Shanmugasundram Source Expert Review Green was added to MAG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v2.21 MAG Arina Puzriakova Entity copied from Hereditary spastic paraplegia - childhood onset v3.18
Hereditary neuropathy or pain disorder v2.21 MAG Arina Puzriakova gene: MAG was added
gene: MAG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Expert Review Amber,Literature,Yorkshire and North East GLH,London North GLH
Q1_23_promote_green tags were added to gene: MAG.
Mode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAG were set to 24482476; 26179919; 31402626; 32629324; 32340215
Phenotypes for gene: MAG were set to Spastic paraplegia 75, autosomal recessive, OMIM:616680
Hereditary neuropathy or pain disorder v1.10 NEMF Arina Puzriakova gene: NEMF was added
gene: NEMF was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature
watchlist, for-review tags were added to gene: NEMF.
Mode of inheritance for gene: NEMF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEMF were set to 32934225; 33048237
Phenotypes for gene: NEMF were set to Hypotonia; Axonal neuropathy; Ataxia; Abnormal brain imaging; Global developmental delay; Intellectual disability; Kyphosis; Scoliosis; Tremor; Respiratory distress
Review for gene: NEMF was set to GREEN
Added comment: Currently not associated with any phenotype in OMIM (last edited on 04/01/2017) or Gene2Phenotype.

Gene added and expert reviewed on Intellectual Disability panel:
https://panelapp.genomicsengland.co.uk/panels/285/gene/NEMF/


- PMID: 32934225 (2020) - 8 individuals from 6 families with a juvenile neuromuscular disease due to biallelic NEMF variants. A ninth individual with similar presentation was found to harbor a single NEMF missense SNV as de novo event.

Features incl. hypotonia (4/8 with biallelic variant (B) | 1/1 monoallelic (M)), DD/ID (7/8B | 0/1M) with speech delay as universal feature (8/8B | 1/1M), axonal neuropathy (3/3B | 1/1M), ataxia (3/8B | 0/1M). Other findings included tremor (1/7B | 1/1M), abnormal brain imaging (2/6B / ?/1M), kyphosis/scoliosis (4/8B | 0/1M), respiratory distress (1/8B | 0/1M). The authors provide evidence that mice homozygous for Nemf missense mutations display progressive motor phenotypes, exhibit neurogenic atrophy and progressive axonal degeneration.


- PMID: 33048237 (2020) - 13 affected individuals from 5 unrelated families presenting with a spectrum of central and peripheral neurological involvement. Peripheral systemic neurological manifestations such as impaired eye movements, limb weakness, and axonal polyneuropathy were found in families 1, 2 and 5 - however, only 2 sibs from family 2 had a precise diagnosis for polyneuropathies. Knockdown studies in cultured mouse primary cortical neurons showed a significant decrease in axon length and impaired synapse development.
Sources: Literature