Skeletal dysplasia
Gene: HOXA11

HOXA11 (homeobox A11)
EnsemblGeneIds (GRCh38): ENSG00000005073
EnsemblGeneIds (GRCh37): ENSG00000005073
OMIM: 142958, Gene2Phenotype
HOXA11 is in 7 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Defects in joint formation and synostoses gp of SD. Only 2 unrelated cases reported?; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432

Publications

11101832

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: HOXA11; Initial rating suggestion: amber
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. One variant reported in four children from two families
Created: 29 Jul 2016, 7:04 a.m.

Created: 29 Jul 2016, 7:04 a.m.

Panel version: 0.939

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 17 Jun 2016, 8:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:04 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Red
Expert list
UKGTN
Radboud University Medical Center, Nijmegen

Phenotypes

Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432

OMIM

142958

Clinvar variants

Variants in HOXA11

Penetrance

Complete

Publications

11101832

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 1

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432 for gene: HOXA11 Publications for gene HOXA11 were changed from to 11101832

6 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to HOXA11.

9 Aug 2016, Gel status: 1