Clefting disorders
Gene: SEC24DEnsemblGeneIds (GRCh38): ENSG00000150961
EnsemblGeneIds (GRCh37): ENSG00000150961
OMIM: 607186, Gene2Phenotype
SEC24D is in 7 panels
1 review
Ee Ming Wong (Victorian Clinical Genetics Services)
- Subtype-specific genome-wide study to test for genetic modifiers of cleft lip VS cleft lip and palate
- SEC24D was genome-wide significant (p = 6.86 × 10-7), and having a burden of rare variants in cleft lip VS cleft lip and palate
Sources: LiteratureCreated: 5 Oct 2023, 1:33 a.m.
Mode of inheritance
Unknown
Phenotypes
Cleft lip with or without cleft palate, MONDO:0016034, SEC24D-related
Publications
- PMID:37676273
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Cleft lip with or without cleft palate, MONDO:0016034, SEC24D-related
- OMIM
- 607186
- Clinvar variants
- Variants in SEC24D
- Penetrance
- None
- Publications
-
- PMID:37676273
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sec24d has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sec24d has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ee Ming Wong (Victorian Clinical Genetics Services)gene: SEC24D was added gene: SEC24D was added to Clefting disorders. Sources: Literature Mode of inheritance for gene: SEC24D was set to Unknown Publications for gene: SEC24D were set to PMID:37676273 Phenotypes for gene: SEC24D were set to Cleft lip with or without cleft palate, MONDO:0016034, SEC24D-related Review for gene: SEC24D was set to RED gene: SEC24D was marked as current diagnostic