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Fetal anomalies

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Microphthalmia is part of the ocular phenotype. XLD.
Created: 27 Dec 2020, 4:57 a.m. | Last Modified: 27 Dec 2020, 4:57 a.m.
Panel Version: 0.113

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

Created: 27 Dec 2020, 4:57 a.m.
Last Modified: 27 Dec 2020, 4:57 a.m.
Panel version: Imported from Anophthalmia_Microphthalmia_Coloboma panel version 0.113

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

Created: 8 Jul 2020, 6:02 a.m.
Last Modified: 8 Jul 2020, 6:02 a.m.
Panel version: Imported from Cataract 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
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Nance-Horan syndrome, MIM# 302350
OMIM
300457
Clinvar variants
Variants in NHS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NHS were set to

25 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: nhs has been classified as Green List (High Evidence).

25 Feb 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: NHS were changed from CATARACT CONGENITAL X-LINKED; NANCE-HORAN SYNDROME to Nance-Horan syndrome, MIM# 302350

25 Feb 2022, Gel status: 3

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

Mode of inheritance for gene: NHS was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NHS were set to CATARACT CONGENITAL X-LINKED; NANCE-HORAN SYNDROME