Cerebral Palsy
Gene: CYFIP2EnsemblGeneIds (GRCh38): ENSG00000055163
EnsemblGeneIds (GRCh37): ENSG00000055163
OMIM: 606323, Gene2Phenotype
CYFIP2 is in 4 panels
1 review
Clare van Eyk (University of Adelaide)
Additional individual with de novo missense variant in CYFIP2 reported in a monocentric cohort study (PMID: 39213953). Clinically ID, spastic quadriplegia, ASD.Created: 2 Sep 2024, 6:42 a.m. | Last Modified: 2 Sep 2024, 6:42 a.m.
Panel Version: 1.367
One individual with a complex neurodevelopmental disorder including cerebral palsy reported with a de novo missense variant in CYFIP2 (PMID: 38843839).
Sources: LiteratureCreated: 24 Jul 2024, 1:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy 65, MIM#618008
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Developmental and epileptic encephalopathy 65, MIM#618008
- OMIM
- 606323
- Clinvar variants
- Variants in CYFIP2
- Penetrance
- None
- Publications
-
- PMID: 38843839
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cyfip2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cyfip2 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: CYFIP2 was added gene: CYFIP2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CYFIP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CYFIP2 were set to PMID: 38843839 Phenotypes for gene: CYFIP2 were set to Developmental and epileptic encephalopathy 65, MIM#618008 Review for gene: CYFIP2 was set to RED