NHS Chromosome X
NHS actin remodeling regulator
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What This Gene Does
This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]
Gene Info
Gene Group
"MicroRNA protein coding host genes|NHS family"
Locus Type
gene with protein product
Location
Xp22.2-p22.13
Ensembl
ENSG00000188158
Associated Conditions (10)
Nance-Horan syndrome
Inborn genetic diseases
Nonpapillary renal cell carcinoma
NHS-related disorder
Intellectual disability
Cataract 40
See cases
Developmental cataract
X-linked syndromic intellectual disability
Ovarian serous cystadenocarcinoma
Key Variants
RS1021087353
Conflicting classifications of pathogenicity
Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome
Health Risk
RS1064795101
Conflicting classifications of pathogenicity
Nance-Horan syndrome, Nance-Horan syndrome
Health Risk
RS1169366418
Conflicting classifications of pathogenicity
Nance-Horan syndrome, Nance-Horan syndrome
Health Risk
RS1192248368
Conflicting classifications of pathogenicity
Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome
Health Risk
RS1192420369
Conflicting classifications of pathogenicity
Nance-Horan syndrome, Nonpapillary renal cell carcinoma, Nance-Horan syndrome
Health Risk
RS1216332385
Conflicting classifications of pathogenicity
Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome
Health Risk
RS138895219
Conflicting classifications of pathogenicity
Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome
Health Risk
RS141013518
Conflicting classifications of pathogenicity
Inborn genetic diseases, Nance-Horan syndrome, NHS-related disorder
Health Risk
RS143119491
Conflicting classifications of pathogenicity
Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome
Health Risk
RS145005596
Conflicting classifications of pathogenicity
Nance-Horan syndrome, Inborn genetic diseases, Intellectual disability
Health Risk
RS148795520
Conflicting classifications of pathogenicity
Inborn genetic diseases, Nance-Horan syndrome, Inborn genetic diseases
Health Risk
RS149877928
Conflicting classifications of pathogenicity
Nance-Horan syndrome, Inborn genetic diseases, Nance-Horan syndrome
Health Risk
All Variants (98)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS132630322 | Health Risk | Pathogenic | Nance-Horan syndrome, Cataract 40, Nance-Horan syndrome |
| RS1341004065 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS1481421967 | Health Risk | Pathogenic | X-linked syndromic intellectual disability, Nance-Horan syndrome, X-linked syndromic intellectual disability |
| RS1484691355 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS1555981408 | Health Risk | Pathogenic | — |
| RS1555981433 | Health Risk | Pathogenic | — |
| RS1556030707 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS1556037290 | Health Risk | Pathogenic | — |
| RS1556038028 | Health Risk | Pathogenic | Inborn genetic diseases, Nance-Horan syndrome, Inborn genetic diseases |
| RS1556038232 | Health Risk | Pathogenic | — |
| RS1556038355 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS1556039406 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1556039548 | Health Risk | Pathogenic | — |
| RS1556039901 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS1569310232 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS1569310288 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS1569319773 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS1601859570 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS2064345759 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS2066406973 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS2066444344 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS2066454000 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS2066464113 | Health Risk | Pathogenic | — |
| RS2146834311 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS2147115316 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS2147140951 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS2147141032 | Health Risk | Pathogenic | — |
| RS2147145062 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS2147145827 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS2519619288 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS2519619514 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS2519620235 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS2519924091 | Health Risk | Pathogenic | Cataract 40, Ovarian serous cystadenocarcinoma, Cataract 40 |
| RS2519927471 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS2519938626 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS2519938991 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS2519939810 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS2519941556 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS398124608 | Health Risk | Pathogenic | — |
| RS398124611 | Health Risk | Pathogenic | — |
| RS727504040 | Health Risk | Pathogenic | — |
| RS727504044 | Health Risk | Pathogenic | — |
| RS786205255 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS786205256 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS786205257 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome, Nance-Horan syndrome |
| RS786205677 | Health Risk | Pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |
| RS864309679 | Health Risk | Pathogenic | Developmental cataract, Developmental cataract |
| RS2519940981 | Health Risk | Pathogenic/Likely pathogenic | Nance-Horan syndrome, Nance-Horan syndrome |