DOK7

docking protein 7
OMIM: 610285, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red DOK7 in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myasthenia, limb-girdle, familial, 254300Fetal akinesia deformation sequence, 208150
No list DOK7 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Fetal akinesia sequence, MIM#618389
Green DOK7 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Expert list Phenotypes Myasthenia, limb-girdle, familial, 254300 Fetal akinesia deformation sequence, 208150
Green DOK7 in Congenital myopathy Level 2: Neurology Version 6.45 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London South GLH Phenotypes Fetal akinesia deformation sequence 3, OMIM:618389 Myasthenic syndrome, congenital, 10, OMIM:254300
Green DOK7 in Congenital myaesthenic syndrome Level 2: Neurology Version 5.7 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Myasthenic syndrome, congenital, 10, OMIM:254300 Tags treatable
Green DOK7 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 2: Neurology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Congenital myasthenic syndrome Limb-girdle muscular dystrophy
Green DOK7 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes ?Fetal akinesia deformation sequence 3, 618389 Myasthenic syndrome, congenital, 10, 254300
Red DOK7 in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	Unknown	Sources Expert Review Red Phenotypes Myasthenia, limb-girdle, familial, 254300Fetal akinesia deformation sequence, 208150