Diamond Blackfan anaemia
Gene: HEATR3EnsemblGeneIds (GRCh38): ENSG00000155393
EnsemblGeneIds (GRCh37): ENSG00000155393
OMIM: 614951, Gene2Phenotype
HEATR3 is in 5 panels
1 review
Chern Lim (Victorian Clinical Genetics Services)
PMID: 35213692:
- 4 unrelated individuals with biallelic HEATR3 variants (missense and splice site variants), exhibiting bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability.
- Functional analysis showed HEATR3 variants destabilised the protein, resulting in a reduction of nuclear uL18 and impaired ribosome biogenesis.
Sources: LiteratureCreated: 2 Jun 2022, 1:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond Blackfan anaemia MONDO:0015253, HEATR3 related
Publications
- PMID: 35213692
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Diamond-Blackfan anaemia 21, MIM# 620072
- OMIM
- 614951
- Clinvar variants
- Variants in HEATR3
- Penetrance
- None
- Publications
-
- PMID: 35213692
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: HEATR3 were changed from Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond Blackfan anaemia MONDO:0015253, HEATR3 related to Diamond-Blackfan anaemia 21, MIM# 620072
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: heatr3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: heatr3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chern Lim (Victorian Clinical Genetics Services)gene: HEATR3 was added gene: HEATR3 was added to Diamond Blackfan anaemia. Sources: Literature Mode of inheritance for gene: HEATR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEATR3 were set to PMID: 35213692 Phenotypes for gene: HEATR3 were set to Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond Blackfan anaemia MONDO:0015253, HEATR3 related Review for gene: HEATR3 was set to GREEN gene: HEATR3 was marked as current diagnostic