Muscular dystrophy and myopathy_Paediatric
Gene: FKBP14
Affected individuals typically present at birth with congenital hypotonia and weakness.
Sources: LiteratureCreated: 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
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
Gene: fkbp14 has been classified as Green List (High Evidence).
Gene: fkbp14 has been classified as Green List (High Evidence).
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