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Cataracts

Gene: NHS

Green List (high evidence)

NHS (NHS actin remodeling regulator)
EnsemblGeneIds (GRCh38): ENSG00000188158
EnsemblGeneIds (GRCh37): ENSG00000188158
OMIM: 300457, Gene2Phenotype
NHS is in 6 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

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, 302350; X-linked cataracts

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Is on the Manchester congenital cataracts gene panel. It is a confirmed DD gene for cataract congenital X-linked, and Nance-Horan syndrome. Mode of inheritance indicated in G2P = hemizygous = biallelic in females.
Created: 25 Apr 2016, 9:46 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Nance-Horan syndrome MIMID, Cataract congenital X-linked; cataract congenital X-linked; Nance-Horan syndrome

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
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nance-Horan syndrome, 302350
  • Nance-Horan syndrome MIMID, Cataract congenital X-linked
  • cataract congenital X-linked
  • Nance-Horan syndrome
  • Nance-Horan syndrome, 302350
  • X-linked cataracts
OMIM
300457
Clinvar variants
Variants in NHS
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for NHS were set to Nance-Horan syndrome, 302350; Nance-Horan syndrome MIMID, Cataract congenital X-linked; cataract congenital X-linked; Nance-Horan syndrome; Nance-Horan syndrome, 302350; X-linked cataracts

14 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

31 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for NHS were set to Nance-Horan syndrome, 302350; Nance-Horan syndrome MIMID, Cataract congenital X-linked; cataract congenital X-linked; Nance-Horan syndrome

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for NHS was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

13 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

NHS was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

NHS was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen