1. Genes and Genomic Entities
  2. KCNH1

KCNH1

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

6 panels

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

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.25

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


Level 2: Musculoskeletal
Version 7.22
Latest signed off version: v7.0 (30 Apr 2025)

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


    Level 2: Fetal (including NIPD)
    Version 6.181
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Zimmermann-Laband syndrome 1, OMIM:135500
    Green KCNH1 in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    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 2: Neurology
    Version 8.167
    Latest signed off version: v8.0 (30 Apr 2025)

    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 2: Developmental disorders
    Version 9.345
    Latest signed off version: v9.0 (30 Apr 2025)

    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