HEATR3

HEAT repeat containing 3
OMIM: 614951, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green HEATR3 in Limb disorders


Version 4.16
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Anemia
    • Thrombocytopenia
    • Growth delay
    • Short stature
    • Abnormality of the skeletal system
    • Abnormality of finger
    • Abnormality of the thumb
    • Intellectual disability
    • Obesity
    • Abnormality of the face
    Green HEATR3 in Rare anaemia


    Version 3.7
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Anemia
    • Thrombocytopenia
    • Growth delay
    • Short stature
    • Abnormality of the skeletal system
    • Abnormality of finger
    • Abnormality of the thumb
    • Intellectual disability
    • Obesity
    • Abnormality of the face
    Amber HEATR3 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.52
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Anemia
    • Thrombocytopenia
    • Growth delay
    • Short stature
    • Abnormality of the skeletal system
    • Abnormality of finger
    • Abnormality of the thumb
    • Intellectual disability
    • Obesity
    • Abnormality of the face
    Tags
    • watchlist
    Amber HEATR3 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Anemia
    • Thrombocytopenia
    • Growth delay
    • Short stature
    • Abnormality of the skeletal system
    • Abnormality of finger
    • Abnormality of the thumb
    • Intellectual disability
    • Obesity
    • Abnormality of the face