Skeletal dysplasia
Gene: HOXA11
Defects in joint formation and synostoses gp of SD. Only 2 unrelated cases reported?; Review on behalf of Tracy LesterCreated: 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
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: amberCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. One variant reported in four children from two familiesCreated: 29 Jul 2016, 7:04 a.m.
Tier 3Created: 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
Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432 for gene: HOXA11 Publications for gene HOXA11 were changed from to 11101832
Source NHS GMS was added to HOXA11.
Promoted to version 1 9th August 2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for HOXA11 were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 605432
Mode of inheritance for HOXA11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
HOXA11 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN
HOXA11 was added to Unexplained skeletal dysplasiapanel. Sources:
HOXA11 was created by sleigh