Genomics England
GMS Panels
Panels
Genes and Entities

FKBP14

FK506 binding protein 14
OMIM: 614505
PanelMode of inheritanceDetails
5 panels
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS
Green
in Ehlers Danlos syndrome with a likely monogenic cause
R-numbers: R101
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS
Green
in Thoracic aortic aneurysm or dissection (GMS)
R-numbers: R125
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 614557