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Anophthalmia_Microphthalmia_Coloboma

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

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: 0.113

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
Panels with this gene

History Filter Activity

27 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NHS were changed from to Nance-Horan syndrome, MIM# 302350

27 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NHS was added gene: NHS was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NHS was set to Unknown