HEATR3

HEAT repeat containing 3
OMIM: 614951, Gene2Phenotype

5 panels

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


Level 2: Musculoskeletal
Version 7.17
Latest signed off version: v7.0 (30 Apr 2025)

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


    Level 2: Haematology
    Version 3.19
    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 2: Musculoskeletal
    Version 8.33
    Latest signed off version: v8.0 (30 Apr 2025)

    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
    Red HEATR3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Diamond-Blackfan anemia 21, OMIM:620072
    Amber HEATR3 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    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