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Cytopenias and congenital anaemias

Gene: HOXA11

Amber List (moderate evidence)

HOXA11 (homeobox A11)
EnsemblGeneIds (GRCh38): ENSG00000005073
EnsemblGeneIds (GRCh37): ENSG00000005073
OMIM: 142958, Gene2Phenotype
HOXA11 is in 8 panels

1 review

Sarah Leigh (Genomics England Curator)

I don't know

Associated with phenotype in OMIM and as a confirmed G2P. At least 2 variants reported in 2.
Created: 9 Mar 2017, 4:32 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital amegkaryocytic thrombocytopenia
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia, 605432
OMIM
142958
Clinvar variants
Variants in HOXA11
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

HOXA11 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Amber

7 Mar 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for HOXA11 were set to 11101832

7 Mar 2017, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for HOXA11 were set to Congenital amegkaryocytic thrombocytopenia; Radioulnar synostosis with amegakaryocytic thrombocytopenia, 605432

7 Mar 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for HOXA11 were set to

7 Mar 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for HOXA11 were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432

7 Mar 2017, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for HOXA11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

HOXA11 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,Expert list

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

HOXA11 was created by LouiseD