1. Genes and Genomic Entities
  2. PHF8

PHF8

PHD finger protein 8
OMIM: 300560, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green PHF8 in Fetal anomalies


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

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE
Green PHF8 in DDG2P


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

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 SYNDROMIC X-LINKED SIDERIUS TYPE 300263
    Green PHF8 in Clefting


    Level 2: Musculoskeletal
    Version 6.23
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME
    • MRXSSD
    • Cleft lip
    Green PHF8 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 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 syndrome, X-linked, Siderius type, 300263
    • MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE (MRXSSD)