Cerebral Palsy
Gene: CCDC22EnsemblGeneIds (GRCh38): ENSG00000101997
EnsemblGeneIds (GRCh37): ENSG00000101997
OMIM: 300859, Gene2Phenotype
CCDC22 is in 6 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual reported with hemizygous LOF variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Mutations in CCDC22 cause syndromic ID, with hypotonia and delayed psychomotor development reported in some individuals.
Sources: LiteratureCreated: 25 Jun 2024, 5:48 a.m. | Last Modified: 25 Jun 2024, 7:10 a.m.
Panel Version: 1.315
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Ritscher-Schinzel syndrome 2, MIM#300963
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Phenotypes
-
- Ritscher-Schinzel syndrome 2, MIM#300963
- OMIM
- 300859
- Clinvar variants
- Variants in CCDC22
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ccdc22 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ccdc22 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: CCDC22 was added gene: CCDC22 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CCDC22 were set to PMID: 38693247 Phenotypes for gene: CCDC22 were set to Ritscher-Schinzel syndrome 2, MIM#300963 Review for gene: CCDC22 was set to RED