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Skeletal dysplasia

Gene: HOXA11

Red List (low evidence)

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

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.

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.

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

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
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

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

29 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 Jul 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

29 Jul 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

29 Jul 2016, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

29 Jul 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

HOXA11 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

HOXA11 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

HOXA11 was created by sleigh