Genomics England
GMS Panels
Panels
Genes and Entities

HEATR3

HEAT repeat containing 3
OMIM: 614951
PanelMode of inheritanceDetails
2 panels
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
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
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
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