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  3. HEATR3
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Fetal anomalies

Gene: HEATR3

Amber List (moderate evidence)
HEATR3 (HEAT repeat containing 3)
EnsemblGeneIds (GRCh38): ENSG00000155393
EnsemblGeneIds (GRCh37): ENSG00000155393
OMIM: 614951, Gene2Phenotype
HEATR3 is in 5 panels

4 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Vicki Harrison (Wessex Clinical Genetics Service)

I don't know

limb disorders and rare anaemia panels. Diamond-Blackfan anaemia 21. Bone marrow failure syndrome, short stature, facial dysmorphism, limb abnormalities (congenital hip dysplasia, preaxial polydactyly, pes planus, brachydactyly, distal tapering of fingers, hallux valgus, abnormal thumb), cardiac defects (atrial septal defect, dysplastic aortic valves, aortic regurgitation) and intellectual disability. 4 families. Other DBS included in panel. Other anomalies that may be seen e.g. GU, hydrops due to fetal aneamia, radial ray defects.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diamond-Blackfan anemia 21, OMIM:620072

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Natalie Canham (Liverpool Women's Hospital)

Red List (low evidence)

5 cases from four families in a single paper. Unconvincing prenatal presentation - minor distal skeletal findings unlikely to be identified, plus one ASD.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diamond-Blackfan anemia 21, MIM#620072

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Diamond-Blackfan anemia 21, OMIM:620072
OMIM
614951
Clinvar variants
Variants in HEATR3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Ida Ertmanska (Genomics England Curator)

Source Expert Review Amber was added to HEATR3. Added phenotypes Diamond-Blackfan anemia 21, OMIM:620072 for gene: HEATR3 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

20 Feb 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: HEATR3 was added gene: HEATR3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: HEATR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEATR3 were set to 35213692 Phenotypes for gene: HEATR3 were set to Diamond-Blackfan anemia 21, OMIM:620072