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  3. TWIST1
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BRIDGE_SPEED_NEURO_20170705

Gene: TWIST1

Green List (high evidence)
TWIST1 (twist family bHLH transcription factor 1)
EnsemblGeneIds (GRCh38): ENSG00000122691
EnsemblGeneIds (GRCh37): ENSG00000122691
OMIM: 601622, Gene2Phenotype
TWIST1 is in 8 panels

2 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known;in_UKGTN_v12 . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 10:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Created: 2 Aug 2017, 8:08 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 3:05 p.m.
Created: 31 Jul 2017, 3:05 p.m.

Panel version: 0.180

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
Phenotypes
  • Saethre-Chotzen syndrome, 101400
  • Saethre-Chotzen syndrome with eyelid anomalies, 101400
  • Craniosynostosis, type 1, 123100
  • Robinow-Sorauf syndrome, 180750
OMIM
601622
Clinvar variants
Variants in TWIST1
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TWIST1 were set to Saethre-Chotzen syndrome, 101400; Saethre-Chotzen syndrome with eyelid anomalies, 101400; Craniosynostosis, type 1, 123100; Robinow-Sorauf syndrome, 180750

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

TWIST1 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

TWIST1 was created by LouiseD