Hereditary neuropathy or pain disorder
Gene: NDC1EnsemblGeneIds (GRCh38): ENSG00000058804
EnsemblGeneIds (GRCh37): ENSG00000058804
OMIM: 610115, Gene2Phenotype
NDC1 is in 2 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
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, 5:23 p.m. | Last Modified: 12 Aug 2024, 5:23 p.m.
Panel Version: 5.9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Alexander Rossor (UCL Institute of Neurology)
7 individuals from 4 unrelated consanguinioius families
Sources: LiteratureCreated: 23 Jul 2024, 9:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
demyelinating neuropathy; alacrima; achalasia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Literature
- Phenotypes
-
- demyelinating neuropathy
- alacrima
- achalasia
- Tags
- OMIM
- 610115
- Clinvar variants
- Variants in NDC1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag gene-checked tag was added to gene: NDC1.
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: NDC1. Tag Q3_24_NHS_review was removed from gene: NDC1.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to NDC1. Source Expert Review Green was added to NDC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_24_MOI was removed from gene: NDC1.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: ndc1 has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: NDC1. Tag Q3_24_NHS_review tag was added to gene: NDC1. Tag Q3_24_MOI tag was added to gene: NDC1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Sarah Leigh (Genomics England Curator)gene: NDC1 was added gene: NDC1 was added to Hereditary neuropathy or pain disorder. 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