DOK7

docking protein 7
OMIM: 610285
PanelMode of inheritanceDetails
5 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenia, limb-girdle, familial, 254300, Fetal akinesia deformation sequence, 208150
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R80
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 10, 254300, Myasthenia, limb-girdle, familial, Limb girdle congenital myasthenic syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fetal akinesia deformation sequence, 208150, Myasthenic syndrome, congenital, 10, 254300
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Fetal akinesia deformation sequence 3, 618389, Myasthenic syndrome, congenital, 10, 254300
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myasthenic syndrome, Limb-girdle muscular dystrophy