AFF3

AF4/FMR2 family member 3
OMIM: 601464, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green AFF3 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.138

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • KINSSHIP syndrome, MIM# 619297

    Green AFF3 in Hypertrichosis syndromes


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.46

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • KINSSHIP syndrome, MIM# 619297

    Green AFF3 in Mendeliome


    Version 1.1891

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • KINSSHIP syndrome, MIM# 619297

    Green AFF3 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.269

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • KINSSHIP syndrome, MIM# 619297

    Green AFF3 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • KINSSHIP syndrome, MIM# 619297
    • Intellectual disability
    • seizures
    • hypertrichosis

    Green AFF3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • KINSSHIP syndrome, MIM# 619297

    Green AFF3 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • KINSSHIP syndrome, MIM# 619297

    Green AFF3 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • KINSSHIP syndrome, MIM# 619297

    Amber FRA2A STR in Repeat Disorders


    Version 0.167

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental delay
    Tags
    • paediatric-onset