Clefting disorders
Gene: AFDN
AFDN (afadin, adherens junction formation factor)
EnsemblGeneIds (GRCh38): ENSG00000130396
EnsemblGeneIds (GRCh37): ENSG00000130396
OMIM: 159559, Gene2Phenotype
AFDN is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000130396
EnsemblGeneIds (GRCh37): ENSG00000130396
OMIM: 159559, Gene2Phenotype
AFDN is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Over-representation of rare AFDN missense variants reported in a cohort of CL/P individuals of African and Brazilian origin. However, almost all of the variants reported have hets in gnomad. The one that is novel has alternative missense at the same aa position.
Sources: LiteratureCreated: 22 Nov 2022, 12:59 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cleft lip/palate, MONDO:0016044, AFDN-related
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Cleft lip/palate, MONDO:0016044, AFDN-related
- OMIM
- 159559
- Clinvar variants
- Variants in AFDN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
22 Nov 2022, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: afdn has been classified as Red List (Low Evidence).
22 Nov 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: AFDN was added gene: AFDN was added to Clefting disorders. Sources: Literature Mode of inheritance for gene: AFDN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AFDN were set to 36384317 Phenotypes for gene: AFDN were set to Cleft lip/palate, MONDO:0016044, AFDN-related Review for gene: AFDN was set to RED