Mackenzie's Mission_Reproductive Carrier Screening
Gene: NHS

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

1 review

Sarah Righetti (University of New South Wales)

Carrier females may show posterior Y-sutural cataracts with small corneas and slightly reduced vision - no ID phenotype.
Created: 12 Nov 2020, 3:45 a.m. | Last Modified: 12 Nov 2020, 3:45 a.m.

Panel Version: 0.47

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

Created: 12 Nov 2020, 3:45 a.m.
Last Modified: 12 Nov 2020, 3:45 a.m.
Panel version: 0.47

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

7 May 2021, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

7 May 2021, Gel status: 3

Set mode of inheritance

Seb Lunke (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)

19 Apr 2020, 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 Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 40, X-linked, 302200 (3)

Mackenzie's Mission_Reproductive Carrier Screening Gene: NHS