HEATR3

HEAT repeat containing 3
OMIM: 614951, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green HEATR3 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Diamond-Blackfan anaemia 21, MIM# 620072

Green HEATR3 in Diamond Blackfan anaemia


Level 2: Haematological disorders
Version 1.7

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Diamond-Blackfan anaemia 21, MIM# 620072

Green HEATR3 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Diamond Blackfan anaemia, MONDO:0015253, HEATR3 related

Amber HEATR3 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability
  • Diamond-Blackfan anaemia 21, MIM# 620072

Green HEATR3 in Growth failure


Version 1.76

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability
  • Diamond-Blackfan anaemia 21, MIM# 620072