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Prepair 1000+

Gene: DOK7

Green List (high evidence)

DOK7 (docking protein 7)
EnsemblGeneIds (GRCh38): ENSG00000175920
EnsemblGeneIds (GRCh37): ENSG00000175920
OMIM: 610285, Gene2Phenotype
DOK7 is in 13 panels

1 review

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

Association with congenital myasthenia: Over 30 unrelated families reported with bi-allelic variants.

Association with FADS: Four families reported so far with this phenotype, severe end of the spectrum for DOK7-related disorders.
Created: 21 Jan 2025, 5:45 a.m. | Last Modified: 21 Jan 2025, 5:45 a.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 10, MIM# 254300; Fetal akinesia deformation sequence 3, MIM# 618389

Publications

History Filter Activity

23 Jan 2025, 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 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DOK7 were changed from Myasthenic syndrome, congenital, 10, 254300 (3) to Myasthenic syndrome, congenital, 10, MIM# 254300; Fetal akinesia deformation sequence 3, MIM# 618389

23 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DOK7 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Myasthenic syndrome, congenital, 10, 254300 (3) for gene: DOK7

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DOK7 was added gene: DOK7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3)