Thoracic aortic aneurysm and dissection

Gene: THSD4

Amber List (moderate evidence)

THSD4 (thrombospondin type 1 domain containing 4)
EnsemblGeneIds (GRCh38): ENSG00000187720
EnsemblGeneIds (GRCh37): ENSG00000187720
OMIM: 614476, Gene2Phenotype
THSD4 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is no phenotypes associated with this gene in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 16 Apr 2021, 12:50 p.m. | Last Modified: 16 Apr 2021, 12:50 p.m.
Panel Version: 1.7

Zornitza Stark (Australian Genomics)

Green List (high evidence)

5 heterozygous variants in THSD4 (two lead to a premature termination codon) found in 5 families with TAAD. Variants segregated with disease in other family members. THSD4 encodes ADAMTSL6, a microfibril-associated protein that promotes fibrillin-1 matrix assembly. The THSD4 variants studied lead to haploinsufficiency or impaired assembly of fibrillin-1 microfibrils. Thsd4+/- mice showed progressive dilation of the thoracic aorta. Histologic examination of aortic samples from a patient carrying a THSD4 variant and from Thsd4+/- mice, revealed typical medial degeneration and diffuse disruption of extracellular matrix.
Sources: Literature
Created: 16 Jan 2021, 12:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thoracic aortic aneurysm and dissection (TAAD)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • familial thoracic aortic aneurysm and aortic dissection, MONDO:0019625
Tags
Q2_21_rating
OMIM
614476
Clinvar variants
Variants in THSD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: thsd4 has been classified as Amber List (Moderate Evidence).

16 Apr 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: THSD4.

16 Apr 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: THSD4 were changed from Thoracic aortic aneurysm and dissection (TAAD) to familial thoracic aortic aneurysm and aortic dissection, MONDO:0019625

16 Jan 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: THSD4 was added gene: THSD4 was added to Thoracic aortic aneurysm and dissection. Sources: Literature Mode of inheritance for gene: THSD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: THSD4 were set to 32855533 Phenotypes for gene: THSD4 were set to Thoracic aortic aneurysm and dissection (TAAD) Review for gene: THSD4 was set to GREEN