NHS

NHS actin remodeling regulator
OMIM: 300457, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green NHS in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.17
Signed off v.2.2 on 19 Feb 2020

review 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

Green NHS in Fetal anomalies


Version 1.108
Signed off v.1.92 on 21 Aug 2020

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CATARACT CONGENITAL X-LINKED
  • NANCE-HORAN SYNDROME

Green NHS in DDG2P


Version 2.11
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NANCE-HORAN SYNDROME 302350
    • CATARACT CONGENITAL X-LINKED 302200

    Green NHS in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.500
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Nance-Horan syndrome, 302350Cataract 40, X-linked, 302200
    • NANCE-HORAN SYNDROME (NHS)

    Green NHS in Structural eye disease


    Version 1.12
    Signed off v.1.3 on 4 Mar 2020

    review 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
    • NHS GMS
    Phenotypes
    • Nance-Horan syndrome, 302350
    • Cataract 40, X-linked, 302200

    Green NHS in Severe Paediatric Disorders


    Version 1.12

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Nance-Horan syndrome, 302350
    • Cataract 40, X-linked, 302200