Early onset or syndromic epilepsy
Gene: ZBTB18

ZBTB18 (zinc finger and BTB domain containing 18)
EnsemblGeneIds (GRCh38): ENSG00000179456
EnsemblGeneIds (GRCh37): ENSG00000179456
OMIM: 608433, Gene2Phenotype
ZBTB18 is in 4 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)

AD Mental retardation type 22 - seizures have been reported with this syndrome but apparantly the phenotype can be quite variable
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation 22, 612337

Publications

27598823

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 6 variants reported in unrelated cases.
Created: 4 Sep 2018, 10:26 a.m.

Created: 4 Sep 2018, 10:26 a.m.

Panel version: 0.370

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype of this intellectual disability syndrome.
Created: 22 Aug 2018, 9:11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 22, MIM#612337

Publications

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

Created: 22 Aug 2018, 9:11 a.m.

Panel version: 0.335

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

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

Phenotypes

Mental retardation, autosomal dominant 22, 612337

OMIM

608433

Clinvar variants

Variants in ZBTB18

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 ZBTB18.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ZBTB18.

11 Dec 2018, Gel status: 3