Neuromuscular arthrogryposis
Gene: DOK7
Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 28 Apr 2019, 6:36 p.m.
see PanelAppCreated: 28 Apr 2019, 6:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
208150; FETAL AKINESIA DEFORMATION SEQUENCE; FADS
Publications
Source NHS GMS was added to DOK7.
Phenotypes for gene: DOK7 were changed from FADS; 208150; FETAL AKINESIA DEFORMATION SEQUENCE to FADS; FETAL AKINESIA DEFORMATION SEQUENCE, 208150
Source Expert Review Green was added to DOK7. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: DOK7 was added gene: DOK7 was added to Neuromuscular arthrogryposis. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOK7 were set to 19261599 Phenotypes for gene: DOK7 were set to FADS; 208150; FETAL AKINESIA DEFORMATION SEQUENCE