Inherited bleeding disorders
Gene: HOXA11EnsemblGeneIds (GRCh38): ENSG00000005073
EnsemblGeneIds (GRCh37): ENSG00000005073
OMIM: 142958, Gene2Phenotype
HOXA11 is in 7 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Amegakaryocytic thrombocytopenia with radioulnar synostosis
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Amegakaryocytic thrombocytopenia with radioulnar synostosis
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- Amegakaryocytic thrombocytopenia with radioulnar synostosis
- OMIM
- 142958
- Clinvar variants
- Variants in HOXA11
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
Added New Source
Louise Daugherty (Genomics England Curator)HOXA11 was added to Inherited bleeding disorderspanel. Source: Expert Review Green
Added New Source
Ellen McDonagh (Genomics England Curator)HOXA11 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
Created
Ellen McDonagh (Genomics England Curator)HOXA11 was created by ellenmcdonagh