1. Panels
  2. Deafness and congenital structural abnormalities
  3. TWSG1
STRs in panel
Prev Next

Deafness and congenital structural abnormalities

Gene: TWSG1

Red List (low evidence)
TWSG1 (twisted gastrulation BMP signaling modulator 1)
EnsemblGeneIds (GRCh38): ENSG00000128791
EnsemblGeneIds (GRCh37): ENSG00000128791
OMIM: 605049, Gene2Phenotype
TWSG1 is in 1 panel

5 reviews

Muriel Holder (Clinical Genetics, Guy's Hospital)

Red List (low evidence)

Mode of inheritance
Unknown

Mode of pathogenicity
Other

Created: 17 Oct 2016, 12:42 p.m.

Panel version: 0.115

Sarah Leigh (Genomics England Curator)

Not associated with phenotype in OMIM or G2P / DD. No variants reported
Created: 20 Sep 2016, 7:19 a.m.

Mode of inheritance
Unknown

Created: 20 Sep 2016, 7:19 a.m.

Panel version: Imported from "Familial hemifacial microsomia" panel version 0.140

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Red on the Bilateral Microtia Version 1.10 panel.
Created: 12 Sep 2016, 3:02 p.m.
Created: 12 Sep 2016, 3:02 p.m.

Panel version: Imported from "Ear malformations with hearing impairment" panel version 0.96

Jun Shen (Harvard Medical School)

Red List (low evidence)

TWSG1 is not associated with a phenotype entry in OMIM.
Created: 9 Feb 2016, 5:16 p.m.

Publications

Created: 9 Feb 2016, 5:16 p.m.

Panel version: Imported from "Bilateral microtia" panel version 1.0

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Created: 3 Feb 2016, 9:31 p.m.

Panel version: Imported from "Bilateral microtia" panel version 0.0

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bilateral Microtia
OMIM
605049
Clinvar variants
Variants in TWSG1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.

14 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

14 Oct 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TWSG1 were set to 10866189; 11260715; 11260716; 11260717

5 Oct 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene TWSG1 was set to Unknown

5 Oct 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TWSG1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Red

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TWSG1 was created by sleigh