Genes in panel

Hereditary ataxia - adult onset

Gene: ROBO3

Green List (high evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Lots of cases, phenotype includes pontine and cerebellar hypoplasia
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Familial horizontal gaze palsy with progressive scoliosis, 607313

History Filter Activity

27 Apr 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: robo3 has been classified as Green List (High Evidence).

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Familial horizontal gaze palsy with progressive scoliosis, 607313 for gene: ROBO3

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ROBO3.

14 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ROBO3 was added gene: ROBO3 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ROBO3 was set to