Genes in panel
STRs in panel
Prev Next

Skeletal dysplasia

Gene: TWIST2

No list

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

4 reviews

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, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Eleanor Williams (Genomics England Curator)

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.

Sarah Leigh (Genomics England Curator)

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.

Ana Beleza (Bristol Regional Genetics Service)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • NHS GMS
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ablepharon-macrostomia syndrome 200110
  • Barber-Say syndrome 209885
Tags
curated_removed
OMIM
607556
Clinvar variants
Variants in TWIST2
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: TWIST2.

20 Nov 2019, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: twist2 has been removed from the panel.

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Ablepharon-macrostomia syndrome 200110; Barber-Say syndrome 209885 for gene: TWIST2

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TWIST2. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

7 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for TWIST2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

7 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for TWIST2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

7 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TWIST2 were set to Ablepharon-macrostomia syndrome 200110; Barber-Say syndrome 209885

7 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Jul 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

TWIST2 was added to Unexplained skeletal dysplasiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen

17 Jun 2016, Gel status: 0

Added New Source

Ana Beleza (Bristol Regional Genetics Service)

TWIST2 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list

17 Jun 2016, Gel status: 0

Created

Ana Beleza (Bristol Regional Genetics Service)

TWIST2 was created by anabeleza