Aortopathy_Connective Tissue Disorders
Gene: FKBP14EnsemblGeneIds (GRCh38): ENSG00000106080
EnsemblGeneIds (GRCh37): ENSG00000106080
OMIM: 614505, Gene2Phenotype
FKBP14 is in 7 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229).
At least 6 unrelated families with homozygous or compound heterozygous variants reported with this EDS subtype.
Sources: Expert listCreated: 1 Jul 2020, 6:29 a.m. | Last Modified: 1 Jul 2020, 6:30 a.m.
Panel Version: 0.120
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MIM#614557
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MIM#614557
- OMIM
- 614505
- Clinvar variants
- Variants in FKBP14
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fkbp14 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fkbp14 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fkbp14 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FKBP14 was added gene: FKBP14 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKBP14 were set to 22265013; 28306229; 24773188; 27149304 Phenotypes for gene: FKBP14 were set to Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MIM#614557