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  2. Congenital Heart Defect
  3. ROBO1
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Congenital Heart Defect

Gene: ROBO1

Green List (high evidence)
ROBO1 (roundabout guidance receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000169855
EnsemblGeneIds (GRCh37): ENSG00000169855
OMIM: 602430, Gene2Phenotype
ROBO1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families reported and a mouse model. Note mono allelic and bi-allelic variants in this gene also linked with pituitary abnormalities.
Sources: Expert list
Created: 17 Jan 2020, 1:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tetralogy of Fallot; septal defects

Publications

Created: 17 Jan 2020, 1:56 a.m.

Panel version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Tetralogy of Fallot
  • septal defects
OMIM
602430
Clinvar variants
Variants in ROBO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: robo1 has been classified as Green List (High Evidence).

17 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: robo1 has been classified as Green List (High Evidence).

17 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ROBO1 was added gene: ROBO1 was added to Congenital Heart Defect. Sources: Expert list Mode of inheritance for gene: ROBO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ROBO1 were set to 28592524 Phenotypes for gene: ROBO1 were set to Tetralogy of Fallot; septal defects Review for gene: ROBO1 was set to GREEN