Clefting disorders
Gene: RIC1EnsemblGeneIds (GRCh38): ENSG00000107036
EnsemblGeneIds (GRCh37): ENSG00000107036
OMIM: 610354, Gene2Phenotype
RIC1 is in 4 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
PMID:36493769 identified an intragenic deletion by high-res microarray of exons 1-2 in 3 individuals with non-syndromic cleft lip/palate. This deleton is not present in gnomAD. Inheritance information was available in 2 individuals; one was de novo, the other inherited from an affected mother. Note that the gene is not LOF constrained in gnomAD.
Knockdown and knockout of the gene in Xenopus and Zebrafish resulted in craniofacial malformations in a large proportion (but not 100%) of embryos.
Sources: LiteratureCreated: 5 Jan 2023, 3:49 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cleft lip/palate MONDO:0016044, RIC1-related
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cleft lip/palate MONDO:0016044, RIC1-related
- OMIM
- 610354
- Clinvar variants
- Variants in RIC1
- 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: ric1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ric1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: RIC1 was added gene: RIC1 was added to Clefting disorders. Sources: Literature Mode of inheritance for gene: RIC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RIC1 were set to 36493769 Phenotypes for gene: RIC1 were set to Cleft lip/palate MONDO:0016044, RIC1-related Review for gene: RIC1 was set to GREEN gene: RIC1 was marked as current diagnostic