GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: HOXA11EnsemblGeneIds (GRCh38): ENSG00000005073
EnsemblGeneIds (GRCh37): ENSG00000005073
OMIM: 142958, Gene2Phenotype
HOXA11 is in 7 panels
2 reviews
Eleanor Williams (Genomics England Curator)
updated rating and phenotypes as was swapped with HOXA13. Only affects internal panel.Created: 3 May 2019, 9:13 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Defects in joint formation and synostoses gp of SD. Only 2 unrelated cases reported?; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432
- OMIM
- 142958
- Clinvar variants
- Variants in HOXA11
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: HOXA11 were changed from Hand-foot-uterus syndrome 140000; Guttmacher syndrome 176305 to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: hoxa11 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: HOXA11 was added gene: HOXA11 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HOXA11 were set to Hand-foot-uterus syndrome 140000; Guttmacher syndrome 176305