Cataract
Gene: NHS

NHS (NHS actin remodeling regulator)
EnsemblGeneIds (GRCh38): ENSG00000188158
EnsemblGeneIds (GRCh37): ENSG00000188158
OMIM: 300457, Gene2Phenotype
NHS is in 7 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Classified as "definitive" by ClinGen working group for Nance-Horan syndrome (https://search.clinicalgenome.org/kb/gene-validity/9520)

Obligate heterozygous females had a variable phenotype from total opacity to clear lenses (PMID: 31755796, 25266737)
Created: 8 Jul 2020, 6:02 a.m. | Last Modified: 8 Jul 2020, 6:02 a.m.

Panel Version: 0.180

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Nance-Horan syndrome (MIM# 302350)

Publications

31755796

Created: 8 Jul 2020, 6:02 a.m.
Last Modified: 8 Jul 2020, 6:02 a.m.
Panel version: 0.180

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Nance-Horan syndrome (MIM# 302350)

OMIM

300457

Clinvar variants

Variants in NHS

Penetrance

None

Publications

31755796

Panels with this gene