Structural eye disease
Gene: NHSEnsemblGeneIds (GRCh38): ENSG00000188158
EnsemblGeneIds (GRCh37): ENSG00000188158
OMIM: 300457, Gene2Phenotype
NHS is in 5 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
RH 1. Gomez-Laguna: Mother and daughter with Nance-Horan syndrome (can included microcornea and microphthalmia) and mutation affecting NHS. Can't access paper, so not 100% sure about it. 2. Tug: Mother and two affected sons carry a frameshift in NHS. All have microcornea. 3. Huang: Report three families with nonsense mutations in NHS in affected individuals with phenotypes including microcornea and microphthalmia.Created: 19 Jun 2019, 3:32 p.m.
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
Cataract 40, X-linked; Nance-Horan syndrome; 302200; 302350
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). RH 1. Gomez-Laguna: Mother and daughter with Nance-Horan syndrome (can included microcornea and microphthalmia) and mutation affecting NHS. Can't access paper, so not 100% sure about it. 2. Tug: Mother and two affected sons carry a frameshift in NHS. All have microcornea. 3. Huang: Report three families with nonsense mutations in NHS in affected individuals with phenotypes including microcornea and microphthalmia.Created: 17 Apr 2019, 3:31 p.m.
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
Cataract 40, X-linked; Nance-Horan syndrome; 302200; 302350
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
- NHS GMS
- Phenotypes
-
- Nance-Horan syndrome, 302350
- Cataract 40, X-linked, 302200
- OMIM
- 300457
- Clinvar variants
- Variants in NHS
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NHS was added gene: NHS was added to Structural eye disease. Sources: NHS GMS,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) Publications for gene: NHS were set to 28922055; 17417607; 23566852 Phenotypes for gene: NHS were set to Nance-Horan syndrome, 302350; Cataract 40, X-linked, 302200