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Fetal anomalies

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

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Heterozygous variants identified in individuals from 2 unrelated families with bicuspid aortic valve and aortic dilatation. Supportive functional data. Incomplete penetrance also a feature.
Sources: Literature, Expert list
Created: 20 Dec 2021, 3:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aortic valve disease 3- MIM#618496

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
  • Literature
Phenotypes
  • Aortic valve disease 3- MIM#618496
OMIM
607528
Clinvar variants
Variants in ROBO4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2021, 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).

20 Dec 2021, 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).

20 Dec 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: ROBO4 was added gene: ROBO4 was added to Fetal anomalies. Sources: Literature,Expert list 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 Aortic valve disease 3- MIM#618496 Review for gene: ROBO4 was set to GREEN