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  2. Fetal anomalies
  3. THAP1
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Fetal anomalies

Gene: THAP1

Red List (low evidence)
THAP1 (THAP domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000131931
EnsemblGeneIds (GRCh37): ENSG00000131931
OMIM: 609520, Gene2Phenotype
THAP1 is in 8 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted THAP1 gene rating from Amber to Red.
Created: 24 Mar 2019, 9:26 p.m.
Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for DYSTONIA 6, TORSION.
Created: 12 Feb 2019, 2:32 p.m.
Rating in original PAGE file: 'both DD and IF' for DYSTONIA 6, TORSION
Created: 6 Dec 2018, 10:07 a.m.
Created: 6 Dec 2018, 10:07 a.m.

Panel version: 0.148

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • DYSTONIA 6, TORSION
OMIM
609520
Clinvar variants
Variants in THAP1
Penetrance
None
Panels with this gene

History Filter Activity

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to THAP1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

12 Feb 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Amber was added to THAP1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: THAP1 was added gene: THAP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: THAP1 were set to DYSTONIA 6, TORSION