Hereditary Neuropathy - complex
Gene: NUDT2EnsemblGeneIds (GRCh38): ENSG00000164978
EnsemblGeneIds (GRCh37): ENSG00000164978
OMIM: 602852, Gene2Phenotype
NUDT2 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Eight families reported altogether, though some have same founder variant. Four had polyneuropathy as part of the phenotype.
Sources: LiteratureCreated: 7 Jan 2021, 6:43 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular hypotonia; Global developmental delay; Intellectual disability; Polyneuropathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Muscular hypotonia
- Global developmental delay
- Intellectual disability
- Polyneuropathy
- OMIM
- 602852
- Clinvar variants
- Variants in NUDT2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nudt2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nudt2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NUDT2 was added gene: NUDT2 was added to Hereditary Neuropathy - complex. Sources: Literature Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUDT2 were set to 33058507; 27431290; 30059600; 33058507 Phenotypes for gene: NUDT2 were set to Muscular hypotonia; Global developmental delay; Intellectual disability; Polyneuropathy Review for gene: NUDT2 was set to GREEN