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Prepair 1000+

Gene: NHS

Green List (high evidence)

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

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Definitive association with Nance-Horan syndrome (ClinGen). Nance-Horan syndrome is an X-linked disorder characterized by ocular anomalies (congenital cataracts, microphthalmia); dental anomalies, dysmorphic features, and, in some cases, intellectual disability. Mouse model present.

Obligate heterozygous females had a variable phenotype from total opacity to clear lenses (PMID: 31755796, 25266737)

Also associated with Cataract 40, X-linked MIM#302200 - isolated x-linked congenital cataracts. Variant spectrum includes large deletions reported in literature.
Created: 7 Feb 2025, 11:40 a.m. | Last Modified: 7 Feb 2025, 11:40 a.m.
Panel Version: 1.1566

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; Cataract 40, X-linked MIM#302200

Publications

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
  • Mackenzie's Mission
Phenotypes
  • Cataract 40, X-linked, 302200 (3)
OMIM
300457
Clinvar variants
Variants in NHS
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NHS was added gene: NHS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NHS were set to Cataract 40, X-linked, 302200 (3)