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BabyScreen+ newborn screening

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association.

Congenital onset, though sometimes severe prenatal.

Treatment: Ephedrine, Salbutamol, albuterol, albuterol. Acetylcholine-esterase inhibitors are usually ineffective and may even worsen clinical manifestations.

Non-genetic confirmatory testing: repetitive nerve stimulation test
Created: 11 Nov 2022, 6:39 a.m. | Last Modified: 11 Nov 2022, 6:39 a.m.
Panel Version: 0.889

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 10, MIM# 254300

History Filter Activity

27 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag neurological tag was added to gene: DOK7.

11 Nov 2022, 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).

11 Nov 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: DOK7.

18 Sep 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 gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DOK7 were set to Congenital myasthenic syndrome, MIM# 254300