1. Panels
  2. Atypical Haemolytic Uraemic Syndrome_MPGN
  3. THBD
STRs in panel
Prev Next
Regions in panel
Prev Next

Atypical Haemolytic Uraemic Syndrome_MPGN

Gene: THBD

Amber List (moderate evidence)
THBD (thrombomodulin)
EnsemblGeneIds (GRCh38): ENSG00000178726
EnsemblGeneIds (GRCh37): ENSG00000178726
OMIM: 188040, Gene2Phenotype
THBD is in 7 panels

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 6 families with an inherited platelet disorder and a truncating variant, 4 of which are apparently unrelated families with the same stopgain (p.Cys537Ter). With supporting in vitro assays and phenotypic assessment of patient cells.
Created: 30 Nov 2020, 12:46 a.m. | Last Modified: 30 Nov 2020, 12:46 a.m.
Panel Version: 0.5500

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thrombomodulin‐associated coagulopathy

Publications

Created: 30 Nov 2020, 12:46 a.m.
Last Modified: 30 Nov 2020, 12:46 a.m.
Panel version: Imported from Mendeliome panel version 0.5500

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Variants in this gene have also been linked to thrombophilia. Two families reported with a bleeding disorder, both variants located in the transmembrane domain.
Created: 16 Aug 2020, 7:52 a.m. | Last Modified: 16 Aug 2020, 7:52 a.m.
Panel Version: 0.3799
Initially linked to susceptibility to aHUS (PMID: 19625716). However, more recent studies that have benefited from large population datasets such as ExAC have not found an association (29500241).
Created: 11 Apr 2020, 10:58 p.m. | Last Modified: 11 Apr 2020, 10:58 p.m.
Panel Version: 0.2142

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926; Bleeding disorder

Publications

Created: 11 Apr 2020, 10:58 p.m.
Last Modified: 11 Apr 2020, 10:58 p.m.
Panel version: Imported from Mendeliome panel version 0.3799

Chirag Patel (Genetic Health Queensland)

I don't know

Reviewed after comparison with Genomics England panel:

Initially linked to aHUS in N Engl J Med. 2009 Jul 23;361(4):345-57.

Subsequent studies have failed to validate association: J Am Soc Nephrol. 2018 Dec;29(12):2809-2819; J Immunol. 2018 Apr 1;200(7):2464-2478; Clin J Am Soc Nephrol. 2013 Apr;8(4):554-62
Created: 9 Jan 2020, 4:30 a.m. | Last Modified: 9 Jan 2020, 4:30 a.m.
Panel Version: 0.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Hemolytic uremic syndrome, atypical, susceptibility to, 6}; OMIM #612926

Publications

Created: 9 Jan 2020, 4:30 a.m.
Last Modified: 9 Jan 2020, 4:30 a.m.
Panel version: 0.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 6}
  • OMIM #612926
OMIM
188040
Clinvar variants
Variants in THBD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: thbd has been classified as Amber List (Moderate Evidence).

14 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: THBD were changed from {Hemolytic uremic syndrome, atypical, susceptibility to, 6}; OMIM #612926 to {Hemolytic uremic syndrome, atypical, susceptibility to, 6}; OMIM #612926

14 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: THBD were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to, 6}; OMIM #612926

14 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: THBD were set to

14 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: THBD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: THBD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

9 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: thbd has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: THBD was added gene: THBD was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: THBD was set to Unknown