1. Panels
  2. Incidentalome
  3. THSD4
STRs in panel
Prev Next
Regions in panel
Prev Next

Incidentalome

Gene: THSD4

Green List (high evidence)
THSD4 (thrombospondin type 1 domain containing 4)
EnsemblGeneIds (GRCh38): ENSG00000187720
EnsemblGeneIds (GRCh37): ENSG00000187720
OMIM: 614476, Gene2Phenotype
THSD4 is in 2 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

5 functional 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: 10 Jan 2021, 11:37 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thoracic aortic aneurysm and dissection (TAAD)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 10 Jan 2021, 11:37 p.m.

Panel version: Imported from Aortopathy_Connective Tissue Disorders panel version 1.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Aortic aneurysm, familial thoracic 12, MIM# 619825
Tags
cardiac
OMIM
614476
Clinvar variants
Variants in THSD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Aug 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag cardiac tag was added to gene: THSD4.

6 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: THSD4 were changed from Thoracic aortic aneurysm and dissection (TAAD) to Aortic aneurysm, familial thoracic 12, MIM# 619825

16 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: thsd4 has been classified as Green List (High Evidence).

16 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: thsd4 has been classified as Green List (High Evidence).

16 Jan 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: THSD4 was added gene: THSD4 was added to Incidentalome. 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