Identity
HGNC
LOCATION
Xp22.2
LOCUSID
ALIAS
CTRCT40,CXN,SCML1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4810
MIM: 300457
HGNC: 7820
Ensembl: ENSG00000188158
Variants:
dbSNP: 4810
ClinVar: 4810
TCGA: ENSG00000188158
COSMIC: NHS
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32303606 | 2020 | Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline. | 3 |
| 32303606 | 2020 | Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline. | 3 |
| 30642278 | 2019 | Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome. | 7 |
| 31755796 | 2019 | Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families. | 3 |
| 30642278 | 2019 | Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome. | 7 |
| 31755796 | 2019 | Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families. | 3 |
| 28922055 | 2018 | Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature. | 5 |
| 29402928 | 2018 | A novel small deletion in the NHS gene associated with Nance-Horan syndrome. | 7 |
| 28922055 | 2018 | Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature. | 5 |
| 29402928 | 2018 | A novel small deletion in the NHS gene associated with Nance-Horan syndrome. | 7 |
| 28061824 | 2017 | A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family. | 8 |
| 28464487 | 2017 | A novel Xp22.13 microdeletion in Nance-Horan syndrome. | 9 |
| 28557584 | 2017 | NHS Gene Mutations in Ashkenazi Jewish Families with Nance-Horan Syndrome. | 6 |
| 28061824 | 2017 | A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family. | 8 |
| 28464487 | 2017 | A novel Xp22.13 microdeletion in Nance-Horan syndrome. | 9 |
Citation
Dessen P
NHS (NHS actin remodeling regulator)
Atlas Genet Cytogenet Oncol Haematol. 2018-07-01
Online version: http://atlasgeneticsoncology.org/gene/57511/
