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Ectodermal dysplasia

Gene: TWIST2

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Dec 2025, 3:49 p.m. | Last Modified: 10 Dec 2025, 3:49 p.m.
Panel Version: 4.19
Created: 10 Dec 2025, 3:49 p.m.
Last Modified: 10 Dec 2025, 3:49 p.m.
Panel version: 4.19

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 6 May 2025, 3:47 p.m. | Last Modified: 6 May 2025, 3:47 p.m.
Panel Version: 4.4
This gene is associated with multiple overlapping phenotypes which could be considered as types of ectodermal dysplasia:

- Ablepharon-macrostomia syndrome, OMIM:200110 (AD) - sparse hair, redundant skin, facial dysmorphism

- Barber-Say syndrome, OMIM:209885 (AD) - hypertrichosis, sparse lashes, skin hyperlaxity and redundancy, facial dysmorphism

- Focal facial dermal dysplasia 3, Setleis type, OMIM:227260 (AR) - sparse hair, distichiasis and/or absent eyelashes, redundant skin, bitemporal skin lesions, facial dysmorphism
Created: 6 May 2025, 3:45 p.m. | Last Modified: 6 May 2025, 3:45 p.m.
Panel Version: 4.3
Comment on mode of inheritance: TWIST2 is associated with multiple phenotypes which could be relevant to this panel - Ablepharon-macrostomia syndrome, OMIM:200110 (AD), Barber-Say syndrome, OMIM:209885 (AD) and Focal facial dermal dysplasia 3, Setleis type, OMIM:227260 (AR). Therefore setting MOI to both mono- and biallelic.
Created: 6 May 2025, 3:16 p.m. | Last Modified: 6 May 2025, 3:18 p.m.
Panel Version: 4.3

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Ablepharon-macrostomia syndrome, OMIM:200110 (AD); Barber-Say syndrome, OMIM:209885 (AD); Focal facial dermal dysplasia 3, Setleis type, OMIM:227260 (AR)

Created: 6 May 2025, 3:16 p.m.
Last Modified: 6 May 2025, 3:18 p.m.
Panel version: 4.3

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

Included as differential for ectodermal dysplasia
Sources: Expert Review
Created: 24 Apr 2024, 5:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Focal facial dermal dysplasia 3, Setleis type

Created: 24 Apr 2024, 5:16 p.m.

Panel version: 3.29

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ablepharon-macrostomia syndrome, OMIM:200110 (AD)
  • Barber-Say syndrome, OMIM:209885 (AD)
  • Focal facial dermal dysplasia 3, Setleis type, OMIM:227260 (AR)
OMIM
607556
Clinvar variants
Variants in TWIST2
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2025, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_25_ promote_green was removed from gene: TWIST2.

10 Dec 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

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

6 May 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: twist2 has been classified as Amber List (Moderate Evidence).

6 May 2025, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_25_ promote_green tag was added to gene: TWIST2.

6 May 2025, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TWIST2 were changed from Focal facial dermal dysplasia 3, Setleis type to Ablepharon-macrostomia syndrome, OMIM:200110 (AD); Barber-Say syndrome, OMIM:209885 (AD); Focal facial dermal dysplasia 3, Setleis type, OMIM:227260 (AR)

6 May 2025, Gel status: 0

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: TWIST2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

24 Apr 2024, Gel status: 0

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

Dmitrijs Rots (Children's Clinical University Hospital)

gene: TWIST2 was added gene: TWIST2 was added to Ectodermal dysplasia. Sources: Expert Review Mode of inheritance for gene: TWIST2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TWIST2 were set to Focal facial dermal dysplasia 3, Setleis type Review for gene: TWIST2 was set to GREEN