Thoracic aortic aneurysm and dissection

Gene: ARIH1

Amber List (moderate evidence)

ARIH1 (ariadne RBR E3 ubiquitin protein ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000166233
EnsemblGeneIds (GRCh37): ENSG00000166233
OMIM: 605624, Gene2Phenotype
ARIH1 is in 3 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype 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: 14 Sep 2021, 10:16 a.m. | Last Modified: 14 Sep 2021, 10:16 a.m.
Panel Version: 1.18

Zornitza Stark (Australian Genomics)

Green List (high evidence)

3 unrelated families: A de novo case (R171*) with thoracic aortic aneurysm (TAA), and 2 siblings with TAA and a missense (E15Q). Another proband with cerebrovascular aneurysm (family history of TAA) and a missense variant (E44G). Supporting functional assays of the variants and a Drosophila model.
Sources: Literature
Created: 9 Sep 2021, 10:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thoracic aortic aneurysm

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Thoracic aortic aneurysm, MONDO:0005396
Tags
Q3_21_rating
OMIM
605624
Clinvar variants
Variants in ARIH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: arih1 has been classified as Amber List (Moderate Evidence).

14 Sep 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: ARIH1.

14 Sep 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ARIH1 were changed from Thoracic aortic aneurysm to Thoracic aortic aneurysm, MONDO:0005396

9 Sep 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ARIH1 was added gene: ARIH1 was added to Thoracic aortic aneurysm and dissection. Sources: Literature Mode of inheritance for gene: ARIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARIH1 were set to 29689197; 32102558 Phenotypes for gene: ARIH1 were set to Thoracic aortic aneurysm Review for gene: ARIH1 was set to GREEN