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Hereditary neuropathy NOT PMP22 copy number

Gene: NUDT2

Amber List (moderate evidence)

NUDT2 (nudix hydrolase 2)
EnsemblGeneIds (GRCh38): ENSG00000164978
EnsemblGeneIds (GRCh37): ENSG00000164978
OMIM: 602852, Gene2Phenotype
NUDT2 is in 2 panels

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Eight families reported altogether, though some have same founder variant. Four had polyneuropathy as part of the phenotype.
Created: 7 Jan 2021, 10:03 a.m. | Last Modified: 7 Jan 2021, 10:03 a.m.
Panel Version: 1.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular hypotonia; Global developmental delay; Intellectual disability; Polyneuropathy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: Rating Amber as only 2 unrelated cases harbouring the same variant reported at present
Created: 3 Nov 2020, 4:56 p.m. | Last Modified: 3 Nov 2020, 4:56 p.m.
Panel Version: 1.15
Comment on tags: added 'founder-effect' tag - although authors state that they do not believe p.Ala63GlnfsTer3 to be a founder variant (one family of Mexican descent while the other of Cajun descent), this was not confirmed by haplotype analysis. Also added 'watchlist' tag in anticipation of further publications/clinical evidence to support association with this phenotype.
Created: 3 Nov 2020, 4:55 p.m. | Last Modified: 3 Nov 2020, 4:55 p.m.
Panel Version: 1.14
- PMID: 33058507 (2020) - Three patients from two families harbouring the same homozygous variant (c.186del, p.Ala63GlnfsTer3). Affected individuals present distal upper and lower extremity weakness due to a sensorimotor polyneuropathy with demyelinating and/or axonal features.
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A further 4 Saudi families (7 affected individuals) with a different homozygous NUDT2 variant (c.34C> T, p.Arg12) have been published elsewhere (PMID: 27431290, 30059600), however neuropathy was not reported in these cases.
Sources: Literature
Created: 3 Nov 2020, 4:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sensorimotor polyneuropathy; Muscular hypotonia; Intellectual disability; no OMIM number

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Sensorimotor polyneuropathy
  • Muscular hypotonia
  • Intellectual disability
  • no OMIM number
Tags
watchlist founder-effect
OMIM
602852
Clinvar variants
Variants in NUDT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: nudt2 has been classified as Amber List (Moderate Evidence).

3 Nov 2020, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: NUDT2 were set to 27431290; 30059600; 33058507

3 Nov 2020, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: NUDT2 was added gene: NUDT2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature watchlist, founder-effect tags were added to gene: NUDT2. Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUDT2 were set to 27431290; 30059600; 33058507 Phenotypes for gene: NUDT2 were set to Sensorimotor polyneuropathy; Muscular hypotonia; Intellectual disability; no OMIM number Review for gene: NUDT2 was set to AMBER