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Fetal anomalies

Gene: ROBO3

Amber List (moderate evidence)

ROBO3 (roundabout guidance receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000154134
EnsemblGeneIds (GRCh37): ENSG00000154134
OMIM: 608630, Gene2Phenotype
ROBO3 is in 12 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 4 p.m. | Last Modified: 1 Feb 2021, 4:12 p.m.
Panel Version: 1.514

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Cerebellar hypoplasia
Created: 28 Jan 2021, 3:51 p.m. | Last Modified: 28 Jan 2021, 3:51 p.m.
Panel Version: 1.201

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gaze palsy, familial horizontal, with progressive scoliosis, 1

Rebecca Foulger (Genomics England curator)

I don't know

PAGE group has excluded this gene from their PAGE list.
Created: 8 Nov 2018, 4:46 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313
  • Gaze palsy, familial horizontal, with progressive scoliosis 1, MONDO:0020790
Tags
for-review
OMIM
608630
Clinvar variants
Variants in ROBO3
Penetrance
None
Panels with this gene

History Filter Activity

1 Feb 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ROBO3 were changed from to Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313; Gaze palsy, familial horizontal, with progressive scoliosis 1, MONDO:0020790

1 Feb 2021, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: ROBO3 was changed from to BIALLELIC, autosomal or pseudoautosomal

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: robo3 has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: ROBO3.

8 Nov 2018, Gel status: 0

Created, Added New Source, Set mode of inheritance

Rebecca Foulger (Genomics England curator)

gene: ROBO3 was added gene: ROBO3 was added to Fetal anomalies. Sources: Expert Review Removed Mode of inheritance for gene: ROBO3 was set to