Congenital Myasthenia
Gene: DOK7
DOK7 (docking protein 7)
EnsemblGeneIds (GRCh38): ENSG00000175920
EnsemblGeneIds (GRCh37): ENSG00000175920
OMIM: 610285, Gene2Phenotype
DOK7 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000175920
EnsemblGeneIds (GRCh37): ENSG00000175920
OMIM: 610285, Gene2Phenotype
DOK7 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Over 30 unrelated families reported. Note recent report of mild adult-onset disease and heterozygous variant PMID 32360404.Created: 23 Oct 2020, 7:16 a.m. | Last Modified: 23 Oct 2020, 7:16 a.m.
Panel Version: 0.28
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 10, MIM# 254300
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Myasthenic syndrome, congenital, 10, 254300
- Myasthenia, limb-girdle, familial
- OMIM
- 610285
- Clinvar variants
- Variants in DOK7
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Fetal anomalies
- Congenital Myasthenia
- Additional findings_Paediatric
- Prepair 1000+
- Arthrogryposis
- Mendeliome
- BabyScreen+ newborn screening
- Hydrops fetalis
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Multiple pterygium syndrome_Fetal akinesia sequence
History Filter Activity
23 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dok7 has been classified as Green List (High Evidence).
23 Oct 2020, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DOK7 were set to
14 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: DOK7 was added gene: DOK7 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10, 254300; Myasthenia, limb-girdle, familial