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Severe Paediatric Disorders

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: TWIST2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Ablepharon-macrostomia syndrome, 200110 (3) | Barber-Say syndrome, 209885 (3) | Focal facial dermal dysplasia 3, Setleis type, 227260 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Ablepharon-macrostomia syndrome, 200110
  • Focal facial dermal dysplasia 3, Setleis type, 227260
  • Barber-Say syndrome, 209885
OMIM
607556
Clinvar variants
Variants in TWIST2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TWIST2 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Ablepharon-macrostomia syndrome, 200110; Focal facial dermal dysplasia 3, Setleis type, 227260; Barber-Say syndrome, 209885 for gene: TWIST2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Ablepharon-macrostomia syndrome, 200110; Focal facial dermal dysplasia 3, Setleis type, 227260; Barber-Say syndrome, 209885 for gene: TWIST2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Ablepharon-macrostomia syndrome, 200110; Focal facial dermal dysplasia 3, Setleis type, 227260; Barber-Say syndrome, 209885 for gene: TWIST2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Barber-Say syndrome, 209885; Focal facial dermal dysplasia 3, Setleis type, 227260; Ablepharon-macrostomia syndrome, 200110 for gene: TWIST2

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TWIST2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Ablepharon-macrostomia syndrome, 200110; Focal facial dermal dysplasia 3, Setleis type, 227260; Barber-Say syndrome, 209885 for gene: TWIST2

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to TWIST2.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to TWIST2. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TWIST2 was added gene: TWIST2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TWIST2 was set to