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  3. ROBO4
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Congenital Heart Defect

Gene: ROBO4

Amber List (moderate evidence)
ROBO4 (roundabout guidance receptor 4)
EnsemblGeneIds (GRCh38): ENSG00000154133
EnsemblGeneIds (GRCh37): ENSG00000154133
OMIM: 607528, Gene2Phenotype
ROBO4 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

LoF variants in this gene have high frequency in gnomad. Only two families reported. Functional data is not entirely convincing. May be a susceptibility factor to a relatively common phenotype (bicuspid aortic valve).
Created: 28 Jul 2022, 10:32 p.m. | Last Modified: 28 Jul 2022, 10:32 p.m.
Panel Version: 0.254

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aortic valve disease 8, MIM# 618496; bicuspid aortic valve; ascending aortic aneurysm; ascending aorta dilatation

Publications

Created: 5 Jan 2020, 2:56 a.m.
Last Modified: 5 Jan 2020, 2:56 a.m.
Panel version: 0.254

Sue White (Victorian Clinical Genetics Services)

Green List (high evidence)

incomplete penetrance
Sources: Literature
Created: 5 Jan 2020, 12:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
bicuspid aortic valve; ascending aortic aneurysm; ascending aorta dilatation

Publications

Created: 5 Jan 2020, 12:03 a.m.

Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Aortic valve disease 8, MIM# 618496
  • bicuspid aortic valve
  • ascending aortic aneurysm
  • ascending aorta dilatation
OMIM
607528
Clinvar variants
Variants in ROBO4
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

28 Jul 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ROBO4 were changed from bicuspid aortic valve; ascending aortic aneurysm; ascending aorta dilatation to Aortic valve disease 8, MIM# 618496; bicuspid aortic valve; ascending aortic aneurysm; ascending aorta dilatation

28 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: robo4 has been classified as Amber List (Moderate Evidence).

5 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: robo4 has been classified as Green List (High Evidence).

5 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: robo4 has been classified as Green List (High Evidence).

5 Jan 2020, Gel status: 1

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

Sue White (Victorian Clinical Genetics Services)

gene: ROBO4 was added gene: ROBO4 was added to Congenital Heart Defect_VCGS. Sources: Literature Mode of inheritance for gene: ROBO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ROBO4 were set to 30455415 Phenotypes for gene: ROBO4 were set to bicuspid aortic valve; ascending aortic aneurysm; ascending aorta dilatation Penetrance for gene: ROBO4 were set to Incomplete Review for gene: ROBO4 was set to GREEN