Bleeding and platelet disorders
Gene: HOXA11The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 4 Mar 2022, 9:41 a.m. | Last Modified: 4 Mar 2022, 9:41 a.m.
Panel Version: 1.33
Comment on list classification: Current Green gene rating based on GMS specialist test group consensus; however, note the recent review by Zornitza Stark (Australian Genomics) highlighting limited published evidence to support this gene-disease association. Will be flagged for review at the next GMS panel update (added 'for-review' tag)Created: 14 Jan 2021, 10:31 a.m. | Last Modified: 14 Jan 2021, 10:31 a.m.
Panel Version: 1.13
Two families reported in 2000, segregating same variant. No further reports since. Borderline Amber/Red.Created: 14 Sep 2020, 12:10 a.m. | Last Modified: 14 Sep 2020, 12:10 a.m.
Panel Version: 1.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432
Publications
Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test groupCreated: 18 Feb 2019, 11:23 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.Created: 13 Feb 2019, 11:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
Gene rating submitted by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 7 Feb 2019, 1:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.Created: 18 Mar 2019, 3:30 p.m.
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HOXA11; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; PMID(s): none submittedCreated: 18 Feb 2019, 11:28 a.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HOXA11; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; PMID(s): none submittedCreated: 13 Feb 2019, 11:34 a.m.
Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HOXA11; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; PMID(s): none submittedCreated: 7 Feb 2019, 1:28 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HOXA11; Suggested intial gene rating: Green List (high evidence); Are variants in this gene as part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1; PMID(s): 11101832; 16765069Created: 5 Feb 2019, 1:26 p.m.
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 5 Feb 2019, 11:19 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review was removed from gene: HOXA11.
Source Expert Review Amber was added to HOXA11. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag for-review tag was added to gene: HOXA11.
Gene: hoxa11 has been classified as Green List (High Evidence).
Gene: hoxa11 has been classified as Green List (High Evidence).
Added phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11
Source North West GLH was added to HOXA11.
Added phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11
Source Yorkshire and North East GLH was added to HOXA11.
Added phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11
Source London South GLH was added to HOXA11.
Source NHS GMS was added to HOXA11.
Source Expert Review Green was added to HOXA11. Mode of inheritance for gene HOXA11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes 605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 for gene: HOXA11 Publications for gene HOXA11 were changed from to 16765069; 11101832 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: HOXA11 was added gene: HOXA11 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: HOXA11 was set to