Cerebral Palsy
Gene: ZMYND11
ZMYND11 (zinc finger MYND-type containing 11)
EnsemblGeneIds (GRCh38): ENSG00000015171
EnsemblGeneIds (GRCh37): ENSG00000015171
OMIM: 608668, Gene2Phenotype
ZMYND11 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000015171
EnsemblGeneIds (GRCh37): ENSG00000015171
OMIM: 608668, Gene2Phenotype
ZMYND11 is in 5 panels
1 review
Clare van Eyk (University of Adelaide)
Single individual with novel de novo missense variant and dyskinetic CP with ID, dystonia, peripheral hypertonia and delayed myelination.
Sources: LiteratureCreated: 2 Sep 2024, 6:23 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder 30, MIM#616083
Publications
- PMID: 39213953
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Phenotypes
-
- Intellectual developmental disorder 30, MIM#616083
- OMIM
- 608668
- Clinvar variants
- Variants in ZMYND11
- Penetrance
- None
- Publications
-
- PMID: 39213953
- Panels with this gene
History Filter Activity
2 Sep 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: ZMYND11 was added gene: ZMYND11 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ZMYND11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZMYND11 were set to PMID: 39213953 Phenotypes for gene: ZMYND11 were set to Intellectual developmental disorder 30, MIM#616083 Review for gene: ZMYND11 was set to RED