GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: TWIST2

TWIST2 (twist family bHLH transcription factor 2)
EnsemblGeneIds (GRCh38): ENSG00000233608
EnsemblGeneIds (GRCh37): ENSG00000233608
OMIM: 607556, Gene2Phenotype
TWIST2 is in 8 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

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, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ablepharon-macrostomia syndrome 200110; Barber-Say syndrome 209885

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
NHS GMS

Phenotypes

Ablepharon-macrostomia syndrome 200110
Barber-Say syndrome 209885

OMIM

607556

Clinvar variants

Variants in TWIST2

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: TWIST2 was added gene: TWIST2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TWIST2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TWIST2 were set to Ablepharon-macrostomia syndrome 200110; Barber-Say syndrome 209885

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: TWIST2