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  2. Muscular dystrophy and myopathy_Paediatric
  3. FKBP14
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Muscular dystrophy and myopathy_Paediatric

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Affected individuals typically present at birth with congenital hypotonia and weakness.
Sources: Literature
Created: 2 Jun 2023, 1:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:0013800

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Jun 2023, 1:28 a.m.

Panel version: 0.177

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, 10:35 a.m. | Last Modified: 14 Oct 2020, 10:35 a.m.
Panel Version: 0.271

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 14 Oct 2020, 10:35 a.m.
Last Modified: 14 Oct 2020, 10:35 a.m.
Panel version: Imported from Myopathy - paediatric onset panel version 0.271

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:0013800
OMIM
614505
Clinvar variants
Variants in FKBP14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fkbp14 has been classified as Green List (High Evidence).

2 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fkbp14 has been classified as Green List (High Evidence).

2 Jun 2023, Gel status: 1

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 Muscular dystrophy_Paediatric. Sources: Literature Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKBP14 were set to 31132235 Phenotypes for gene: FKBP14 were set to Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:0013800 Review for gene: FKBP14 was set to GREEN gene: FKBP14 was marked as current diagnostic