Cerebral Palsy
Gene: DYRK1AEnsemblGeneIds (GRCh38): ENSG00000157540
EnsemblGeneIds (GRCh37): ENSG00000157540
OMIM: 600855, Gene2Phenotype
DYRK1A is in 9 panels
2 reviews
Clare van Eyk (University of Adelaide)
Additional individual reported with mono-allelic stopgain in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.Created: 27 May 2024, 5:24 a.m. | Last Modified: 27 May 2024, 5:24 a.m.
Panel Version: 1.193
Phenotypes
Intellectual developmental disorder, MIM#614104
Publications
- PMID: 38693247
Luisa Weiss (University of Adelaide)
6 patients in one large CP cohort study described with mutations in DYRK1A.
Sources: LiteratureCreated: 29 May 2023, 12:38 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder MIM#614104
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Intellectual developmental disorder MIM#614104
- OMIM
- 600855
- Clinvar variants
- Variants in DYRK1A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dyrk1a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dyrk1a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: DYRK1A was added gene: DYRK1A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DYRK1A were set to 33528536 Phenotypes for gene: DYRK1A were set to Intellectual developmental disorder MIM#614104 Review for gene: DYRK1A was set to GREEN