Deafness_Isolated
Gene: FOXL1
FOXL1 (forkhead box L1)
EnsemblGeneIds (GRCh38): ENSG00000176678
EnsemblGeneIds (GRCh37): ENSG00000176678
OMIM: 603252, Gene2Phenotype
FOXL1 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000176678
EnsemblGeneIds (GRCh37): ENSG00000176678
OMIM: 603252, Gene2Phenotype
FOXL1 is in 3 panels
1 review
Lilian Downie (Victorian Clinical Genetics Services)
Single paper with variant in large AD family from Newfoundland with otosclerosis, hearing loss onset varied from late teens onwards. Segregation not completely convincing, 1 person with the deletion without otosclerosis. Conductive HL, sometimes mixed, not isolated SNHL. Second family with common haplotype and same 15bp deletion with otosclerosis. Functional studies. High population frequency and 3x homozygotes.
Sources: LiteratureCreated: 7 Dec 2023, 1:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Otosclerosis 11 #MIM620576
Publications
- PMID: 34633540
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Otosclerosis 11 #MIM620576
- OMIM
- 603252
- Clinvar variants
- Variants in FOXL1
- Penetrance
- None
- Publications
-
- PMID: 34633540
- Panels with this gene
History Filter Activity
7 Dec 2023, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: foxl1 has been classified as Red List (Low Evidence).
7 Dec 2023, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: foxl1 has been classified as Red List (Low Evidence).
7 Dec 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Lilian Downie (Victorian Clinical Genetics Services)gene: FOXL1 was added gene: FOXL1 was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: FOXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXL1 were set to PMID: 34633540 Phenotypes for gene: FOXL1 were set to Otosclerosis 11 #MIM620576 Review for gene: FOXL1 was set to RED