1. Panels
  2. Newborns main panel
  3. THBD
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: THBD

Amber List (moderate evidence)
THBD (thrombomodulin)
EnsemblGeneIds (GRCh38): ENSG00000178726
EnsemblGeneIds (GRCh37): ENSG00000178726
OMIM: 188040, Gene2Phenotype
THBD is in 6 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 19625716 - 7 unrelated patients
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 6
OMIM
188040
Clinvar variants
Variants in THBD
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 6 for gene: THBD

5 Jul 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to THBD. Added phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 6 for gene: THBD Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to THBD. Added phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 6 for gene: THBD Rating Changed from No List (delete) to Red List (low evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: THBD was added gene: THBD was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: THBD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown