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  2. Aortopathy_Connective Tissue Disorders
  3. ARIH1
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Aortopathy_Connective Tissue Disorders

Gene: ARIH1

Green List (high evidence)
ARIH1 (ariadne RBR E3 ubiquitin protein ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000166233
EnsemblGeneIds (GRCh37): ENSG00000166233
OMIM: 605624, Gene2Phenotype
ARIH1 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

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: Other
Created: 11 Aug 2021, 12:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thoracic aortic aneurysm

Publications

Created: 11 Aug 2021, 12:23 a.m.

Panel version: 1.47

Details

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

History Filter Activity

20 Sep 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: arih1 has been classified as Green List (High Evidence).

11 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: arih1 has been classified as Green List (High Evidence).

11 Aug 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ARIH1 was added gene: ARIH1 was added to Aortopathy_Connective Tissue Disorders. Sources: Other 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