HEATR3

HEAT repeat containing 3
OMIM: 614951, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green HEATR3 in Limb disorders Level 2: Musculoskeletal Version 9.4 Latest signed off version: v9.0 (12 Aug 2026) 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 4.8 Latest signed off version: v4.7 (12 Aug 2026)	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 10.5 Latest signed off version: v10.0 (12 Aug 2026) 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 8.5 Latest signed off version: v8.0 (12 Aug 2026)	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 11.28 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset 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