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Genetic epilepsy syndromes

Gene: YWHAG

Green List (high evidence)

YWHAG (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma)
EnsemblGeneIds (GRCh38): ENSG00000170027
EnsemblGeneIds (GRCh37): ENSG00000170027
OMIM: 605356, Gene2Phenotype
YWHAG 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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AD Early infantile epileptic encephalopathy - early onset seizures in most patients followed by intellectual disability, variable behavioural abnormalities and sometimes additional neurological features. Only 5 reported cases on HGMD - all missense 3/5 = epilepsy.
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
Epileptic encephalopathy early infantile 56, 605356

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene.
Guella et al. (2017) PMID: 28777935 reported 4 unrelated patients with early infantile epileptic encephalopathy-56 (EIEE56; 617665) and identified de novo heterozygous missense mutations in the YWHAG gene. The authors also noted that 2 other patients with de novo heterozygous mutations in the YWHAG gene (c.148A>C, p.K50Q; c.398A>C, p.Y133S) had been reported by De Rubeis et al. (2014) PMID:25363760 and the Deciphering Developmental Disorders Study (2017) PMID:28135719, but no clinical details had been provided. There is also a mouse model to support this correlation : Guella et al. (2017) noted that a decrease or increase in Ywhag in mice leads to delayed neuronal migration of pyramidal neurons in the developing brain (PMID: 26297819, 27288018) and that atypical neuronal migration has been implicated in epilepsy.
Created: 4 Sep 2018, 10:39 a.m.
Comment on phenotypes: Epileptic encephalopathy, early infantile, 56 617665
Created: 4 Sep 2018, 10:34 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four unrelated individuals reported with de novo variants in this gene and EE.
Created: 22 Aug 2018, 9:07 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 56, MIM#617665

Publications

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

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
  • Epileptic encephalopathy, early infantile, 56 617665
OMIM
605356
Clinvar variants
Variants in YWHAG
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 YWHAG.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to YWHAG.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Four unrelated individuals rep

4 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

4 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

4 Sep 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: YWHAG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

4 Sep 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: YWHAG were set to 26297819; 27288018; 28777935; 25363760

4 Sep 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: YWHAG were set to Epileptic encephalopathy, early infantile, 56 617665

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to YWHAG. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

YWHAG was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

YWHAG was created by Sarah Leigh