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DDG2P

Gene: YWHAZ

Red List (low evidence)
YWHAZ (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta)
EnsemblGeneIds (GRCh38): ENSG00000164924
EnsemblGeneIds (GRCh37): ENSG00000164924
OMIM: 601288, Gene2Phenotype
YWHAZ is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for YWHAZ-related developmental delay with simplified gyral pattern are limited, monoallelic_autosomal and undetermined (PMID:36001342). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03510.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease YWHAZ-related developmental delay with simplified gyral pattern is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 36001342).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

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

Phenotypes
YWHAZ-related developmental delay with simplified gyral pattern

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • YWHAZ-related developmental delay with simplified gyral pattern
OMIM
601288
Clinvar variants
Variants in YWHAZ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: YWHAZ was changed from Other to None

26 Sep 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: YWHAZ was added gene: YWHAZ was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: YWHAZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: YWHAZ were set to 36001342 Phenotypes for gene: YWHAZ were set to YWHAZ-related developmental delay with simplified gyral pattern Mode of pathogenicity for gene: YWHAZ was set to Other