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Hereditary Neuropathy - complex

Gene: NDC1

Green List (high evidence)
NDC1 (NDC1 transmembrane nucleoporin)
EnsemblGeneIds (GRCh38): ENSG00000058804
EnsemblGeneIds (GRCh37): ENSG00000058804
OMIM: 610115, Gene2Phenotype
NDC1 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

7 cases from 4 consanguineous families (3 different variants: 1 intronic variants that causes in-frame RNA splice impact, 2 missense) with a Triple-A-like syndrome (including ID and neuropathy). Supporting cellular localisation studies were conducted in patient cell lines with the splice variant. NDC1 is required to anchor ALADIN (encoded by AAAS, the gene that causes Triple-A syndrome) in the nuclear pore complex.
Sources: Literature
Created: 1 Aug 2024, 4:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
triple-A syndrome MONDO:0009279

Publications

Created: 1 Aug 2024, 4:22 a.m.

Panel version: 1.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • triple-A syndrome MONDO:0009279
OMIM
610115
Clinvar variants
Variants in NDC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ndc1 has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ndc1 has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NDC1 was added gene: NDC1 was added to Hereditary Neuropathy - complex. Sources: Literature Mode of inheritance for gene: NDC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDC1 were set to 39003500; 19782045 Phenotypes for gene: NDC1 were set to triple-A syndrome MONDO:0009279 Review for gene: NDC1 was set to GREEN