Cerebral Palsy
Gene: ZMYM2EnsemblGeneIds (GRCh38): ENSG00000121741
EnsemblGeneIds (GRCh37): ENSG00000121741
OMIM: 602221, Gene2Phenotype
ZMYM2 is in 6 panels
1 review
Clare van Eyk (University of Adelaide)
Single case with de novo pathogenic variant in ZMYM2, diagnosed with spastic quadriplegic cerebral palsy originally attributed to other causes (PMID: 38168508).
Sources: LiteratureCreated: 26 Jun 2024, 4:38 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM#619522
Publications
- PMID: 38168508
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM#619522
- OMIM
- 602221
- Clinvar variants
- Variants in ZMYM2
- Penetrance
- None
- Publications
-
- PMID: 38168508
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zmym2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zmym2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: ZMYM2 was added gene: ZMYM2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZMYM2 were set to PMID: 38168508 Phenotypes for gene: ZMYM2 were set to Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM#619522 Review for gene: ZMYM2 was set to RED