Bilateral congenital or childhood onset cataracts
Gene: NHS
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
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
This gene has been classified as Green List (High Evidence).
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
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)
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
Mode of inheritance for NHS was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
NHS was added to Cataractspanel. Sources: UKGTN
NHS was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen