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Intellectual disability syndromic and non-syndromic

Gene: YWHAE

Green List (high evidence)

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

1 review

Yetong Chen (University of Melbourne)

Green List (high evidence)

PMID 36999555 reports 6 patients with YWHAE variants (1 intragenic deletion and 5 large deletions encompassing YWHEA but not PAFAH1B1) who have mild to severe intellectual disability.
Sources: Literature
Created: 7 Apr 2023, 12:09 p.m.

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
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
OMIM
605066
Clinvar variants
Variants in YWHAE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Apr 2023, Gel status: 0

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

Yetong Chen (University of Melbourne)

gene: YWHAE was added gene: YWHAE was added to Intellectual disability syndromic and non-syndromic. Sources: Literature 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 GREEN