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Newborns main panel

Gene: HOXA11

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity might be loss-of-function (LOF), however this is not established. So no LOF prioritisation algorithm.
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 7 Jul 2023, 9:50 a.m.
Panel Version: 0.147
PMID: 11101832 - 2 families
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 7 Jul 2023, 9:50 a.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
OMIM
142958
Clinvar variants
Variants in HOXA11
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to HOXA11. Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

14 Jul 2023, Gel status: 3

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: HOXA11 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

14 Jul 2023, Gel status: 3

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: HOXA11 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None

5 Jul 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to HOXA11. Mode of pathogenicity for gene HOXA11 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to HOXA11. Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to HOXA11. Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: HOXA11 was added gene: HOXA11 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown