Skeletal dysplasia

Gene: TWIST2

Red List (low evidence)

?? 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 Oldridge

Created: 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

I don't know

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 dysplasia

Created: 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.

Green List (high evidence)

Tier 3

Created: 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