Genomics England
GMS Panels
Panels
Genes and Entities

DOK7

docking protein 7
OMIM: 610285
PanelMode of inheritanceDetails
5 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenia, limb-girdle, familial, 254300, Fetal akinesia deformation sequence, 208150
Green
in Congenital myaesthenic syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R80
Signed-off version 4.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 10, OMIM:254300
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
Fetal akinesia deformation sequence 3, OMIM:618389, Myasthenic syndrome, congenital, 10, OMIM:254300
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Fetal akinesia deformation sequence 3, 618389, Myasthenic syndrome, congenital, 10, 254300
Green
in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.37
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myasthenic syndrome, Limb-girdle muscular dystrophy