1. Genes and Genomic Entities
  2. KCNH1

KCNH1

potassium voltage-gated channel subfamily H member 1
OMIM: 603305, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green KCNH1 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Temple-Baraitser syndrome, 611816
  • Hypoplasia of terminal phalanges
Green KCNH1 in Limb disorders


Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Hypoplasia of terminal phalanges
    • Temple-Baraitser syndrome, 611816
    Amber KCNH1 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • TEMPLE BARRAISTER SYNDROME
    Green KCNH1 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • TEMPLE BARRAISTER SYNDROME 611816
    Green KCNH1 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.10
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Temple-Baraitser syndrome, OMIM:611816
    • Zimmermann-Laband syndrome 1, OMIM:135500
    • Intellectual disability
    • Encephalopathy without features of TBS/ZLS
    Green KCNH1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Temple-Baraitser syndrome, OMIM:611816
    • Zimmermann-Laband syndrome 1, OMIM:135500
    • Intellectual disability
    • Encephalopathy without features of TBS/ZLS
    Green KCNH1 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Zimmermann-Laband syndrome 1, 135500
    • Temple-Baraitser syndrome, 611816