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Hereditary neuropathy

Gene: NDC1

Green List (high evidence)
NDC1 (NDC1 transmembrane nucleoporin)
EnsemblGeneIds (GRCh38): ENSG00000058804
EnsemblGeneIds (GRCh37): ENSG00000058804
OMIM: 610115, Gene2Phenotype
NDC1 is in 2 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

PMID: 39003500 reports three biallelic NDC1 variants in four unrelated consanguineous families with neuropathy and Triple-A-like syndrome. Functional studies revealed that the variants affected residues in the ALADIN binding domains, furthermore, patient's skin fibroblasts show decreased recruitment of ALADIN to the nuclear envelope and decreased post-mitotic nuclear pore complex insertion.
Created: 12 Aug 2024, 5:22 p.m. | Last Modified: 12 Aug 2024, 5:22 p.m.
Panel Version: 1.489
Created: 12 Aug 2024, 5:22 p.m.
Last Modified: 12 Aug 2024, 5:22 p.m.
Panel version: 1.489

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

7 individuals from 4 unrelated consanguinioius families
Sources: Literature
Created: 23 Jul 2024, 9:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
demyelinating neuropathy; alacrima; achalasia

Publications

Created: 23 Jul 2024, 9:02 p.m.

Panel version: 1.480

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • demyelinating neuropathy
  • alacrima
  • achalasia
OMIM
610115
Clinvar variants
Variants in NDC1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

12 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ndc1 has been classified as Amber List (Moderate Evidence).

23 Jul 2024, Gel status: 0

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

Alexander Rossor (UCL Institute of Neurology)

gene: NDC1 was added gene: NDC1 was added to Hereditary neuropathy. Sources: Literature Mode of inheritance for gene: NDC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDC1 were set to 39003500 Phenotypes for gene: NDC1 were set to demyelinating neuropathy; alacrima; achalasia Penetrance for gene: NDC1 were set to Complete Review for gene: NDC1 was set to GREEN