Congenital Heart Defect
Gene: CCDC22EnsemblGeneIds (GRCh38): ENSG00000101997
EnsemblGeneIds (GRCh37): ENSG00000101997
OMIM: 300859, Gene2Phenotype
CCDC22 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities. At least 5 unrelated families reported.
Sources: Expert ReviewCreated: 10 Dec 2021, 4:33 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Ritscher-Schinzel syndrome 2, MIM# 300963
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Ritscher-Schinzel syndrome 2, MIM# 300963
- OMIM
- 300859
- Clinvar variants
- Variants in CCDC22
- 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: ccdc22 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ccdc22 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CCDC22 was added gene: CCDC22 was added to Congenital Heart Defect. Sources: Expert Review 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 21826058; 24916641; 34020006; 33059814; 31971710 Phenotypes for gene: CCDC22 were set to Ritscher-Schinzel syndrome 2, MIM# 300963 Review for gene: CCDC22 was set to GREEN