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Intellectual disability

Gene: YWHAE

Red List (low evidence)

YWHAE (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon)
EnsemblGeneIds (GRCh38): ENSG00000108953
EnsemblGeneIds (GRCh37): ENSG00000108953
OMIM: 605066, Gene2Phenotype
YWHAE is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

PMID:36999555 reported three individuals with sequence variants in YWHAE gene and six individuals with deletion variants (1 intragenic deletion and 5 large deletions encompassing YWHEA but not PAFAH1B1). In addition, five patients were previously reported with deletion variants. Only one of three individuals with sequence variants had mild intellectual disability, while five of 12 patients with deletion variants had mild to severe intellectual disability.
Sources: Literature
Created: 21 Jun 2024, 10:07 p.m. | Last Modified: 21 Jun 2024, 10:08 p.m.
Panel Version: 6.32

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
cnv
OMIM
605066
Clinvar variants
Variants in YWHAE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jun 2024, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: YWHAE was added gene: YWHAE was added to Intellectual disability. Sources: Literature cnv tags were added to gene: YWHAE. Mode of inheritance for gene: YWHAE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: YWHAE were set to 36999555 Phenotypes for gene: YWHAE were set to neurodevelopmental disorder, MONDO:0700092 Review for gene: YWHAE was set to RED