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  3. FKBP14
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Multiple joint dislocations and laxity

Gene: FKBP14

Green List (high evidence)
FKBP14 (FK506 binding protein 14)
EnsemblGeneIds (GRCh38): ENSG00000106080
EnsemblGeneIds (GRCh37): ENSG00000106080
OMIM: 614505, Gene2Phenotype
FKBP14 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ehlers-Danlos syndrome kyphoscoliotic type 2 is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine. Over 20 individuals reported.
Created: 14 Oct 2020, 10:47 a.m. | Last Modified: 14 Oct 2020, 10:47 a.m.
Panel Version: 0.4913

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557

Publications

Created: 14 Oct 2020, 10:47 a.m.
Last Modified: 14 Oct 2020, 10:47 a.m.
Panel version: Imported from Mendeliome panel version 0.4913

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS 614557
OMIM
614505
Clinvar variants
Variants in FKBP14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Feb 2020, Gel status: 3

Added New Source, Set Phenotypes

Tiong Tan (Victorian Clinical Genetics Services)

Source Victorian Clinical Genetics Services was added to FKBP14. Added phenotypes EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS 614557 for gene: FKBP14

12 Feb 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Tiong Tan (Victorian Clinical Genetics Services)

gene: FKBP14 was added gene: FKBP14 was added to Multiple joint dislocations and laxity. Sources: Expert Review Green,Literature Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKBP14 were set to 28617417; 22265013 Phenotypes for gene: FKBP14 were set to EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS 614557