Early onset or syndromic epilepsy
Gene: ROGDI

ROGDI (rogdi homolog)
EnsemblGeneIds (GRCh38): ENSG00000067836
EnsemblGeneIds (GRCh37): ENSG00000067836
OMIM: 614574, Gene2Phenotype
ROGDI is in 5 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Created: 6 Aug 2019, 8:38 p.m.
Last Modified: 6 Aug 2019, 8:38 p.m.
Panel version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR Kohlschutter-Tonz syndrome - severe global dev delay, early onset inmtractable seizures, spasticity and amelogenesis imperfecta affecting primary and secondary teeth - normal development until seizure onset. Several reported cases where variants idenitfied.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kohlschutter-Tonz syndrome, 226750

Publications

22482807

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported in at least 7 unrelated cases.
Created: 29 Nov 2018, 3:58 p.m.

Created: 29 Nov 2018, 3:58 p.m.

Panel version: 0.1269

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype.
Created: 20 Aug 2018, 10:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kohlschutter-Tonz syndrome, MIM#226750

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Aug 2018, 10:42 a.m.

Panel version: 0.335

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Wessex and West Midlands GLH
NHS GMS
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Kohlschutter-Tonz syndrome 226750

OMIM

614574

Clinvar variants

Variants in ROGDI

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to ROGDI.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ROGDI.

11 Dec 2018, Gel status: 3