HEATR3

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green HEATR3 in Bone Marrow Failure Level 2: Haematological disorders Version 1.114 Component of the following Super Panels: Immunological disorders_SuperPanel	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 1.8	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Diamond-Blackfan anaemia 21, MIM# 620072
Green HEATR3 in Mendeliome Version 1.2374	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 1.83	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

5 panels