1. Genes and Genomic Entities
  2. ZDHHC9

ZDHHC9

zinc finger DHHC-type containing 9
OMIM: 300646, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red ZDHHC9 in Fetal anomalies


Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED
Green ZDHHC9 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

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
    • Mental retardation, X-linked syndromic, Raymond type, OMIM:300799
    Green ZDHHC9 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review
    • Expert Review Green
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • epilepsy
    • intellectual disability
    • Mental retardation, X-linked syndromic, Raymond type, OMIM:300799
    Green ZDHHC9 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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
    • Mental retardation, X-linked syndromic, Raymond type, OMIM:300799
    Green ZDHHC9 in Severe Paediatric Disorders


    Version 1.184

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, X-linked syndromic, Raymond type, 300799