Intellectual disability
Gene: YWHAG

YWHAG (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma)
EnsemblGeneIds (GRCh38): ENSG00000170027
EnsemblGeneIds (GRCh37): ENSG00000170027
OMIM: 605356, Gene2Phenotype
YWHAG is in 4 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Changed from Amber to Green, there is enough evidence to support variants in the gene YWHAG causing ID phenotype
Created: 10 May 2018, 3:44 p.m.

Comment on publications: added publications to support the mouse model: PMID 26297819, 27288018
Created: 10 May 2018, 3:41 p.m.

Comment on publications: 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, K50Q; c.398A-C, 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: 10 May 2018, 3:37 p.m.

Added from a recommendation by Helen Brittain (Birmingham Women’s and Children’s NHS Foundation Trust)
Created: 10 May 2018, 2:05 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Epileptic encephalopathy, early infantile 56, 617665; Intellectual disability

Publications

28777935

Created: 10 May 2018, 2:05 p.m.

Panel version: 2.52

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Expert Review
Literature

Phenotypes

Epileptic encephalopathy, early infantile 56, 617665
Intellectual disability

OMIM

605356

Clinvar variants

Variants in YWHAG

Penetrance

None

Publications

Panels with this gene