Bilateral congenital or childhood onset cataracts
Gene: NHSEnsemblGeneIds (GRCh38): ENSG00000188158
EnsemblGeneIds (GRCh37): ENSG00000188158
OMIM: 300457, Gene2Phenotype
NHS is in 5 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
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)
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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
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)
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
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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()NHS was added to Cataractspanel. Sources: UKGTN
Added New Source
GEL ()NHS was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen