Skeletal dysplasia
Gene: TWIST2
?? Mild facial abnormalities. should this be on skeletal panel?? 6 variants on hgmd (3 setleiss, 3 barber-say) all predominantly ectodermal dysplasias. Not in Bonafe et al; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ablepharon-macrostomia syndrome 200110; Barber-Say syndrome 209885
Comment on list classification: Removing this gene from the panel as the OMIM associated diseases do not have a clear skeletal phenotype.Created: 20 Nov 2019, 12:23 p.m. | Last Modified: 21 Nov 2019, 11:38 p.m.
Panel Version: 1.244
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: TWIST2; Initial rating suggestion: red - not sd?Created: 6 Mar 2019, 11:37 a.m.
Comment on mode of inheritance: Biallelic for Focal facial dermal dysplasia 3, Setleis type (227260), but this phenotype does not seem to be relevant to skeletal dysplasiaCreated: 7 Jul 2016, 10:23 a.m.
Comment on list classification: Tier 3 gene for skeletal dysplasia (Ana Beleza)Created: 7 Jul 2016, 10:14 a.m.
Tier 3Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ablepharon-macrostomia syndrome 200110; Barber-Say syndrome 209885; Focal facial dermal dysplasia 3, Setleis type 227260
Variants in this GENE are reported as part of current diagnostic practice
Tag curated_removed tag was added to gene: TWIST2.
Gene: twist2 has been removed from the panel.
Added phenotypes Ablepharon-macrostomia syndrome 200110; Barber-Say syndrome 209885 for gene: TWIST2
Source NHS GMS was added to TWIST2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Mode of inheritance for TWIST2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for TWIST2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for TWIST2 were set to Ablepharon-macrostomia syndrome 200110; Barber-Say syndrome 209885
This gene has been classified as Green List (High Evidence).
TWIST2 was added to Unexplained skeletal dysplasiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
TWIST2 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
TWIST2 was created by anabeleza