Hydrops fetalis
Gene: DOK7EnsemblGeneIds (GRCh38): ENSG00000175920
EnsemblGeneIds (GRCh37): ENSG00000175920
OMIM: 610285, Gene2Phenotype
DOK7 is in 13 panels
2 reviews
Di Milnes (Genetic Health Queensland)
Homozygous pathogenic variant NM_173660.5:c.439delG
recurrent NIHF in four consanguineous families
NIHF as part of the presentation of FADSCreated: 25 Jul 2022, 2:42 a.m. | Last Modified: 25 Jul 2022, 2:42 a.m.
Panel Version: 0.284
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fetal akinesia deformation sequence 3, MIM# 618389
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Upgrade to Green with additional families published (founder variant).Created: 26 Jul 2022, 4:19 a.m. | Last Modified: 26 Jul 2022, 4:19 a.m.
Panel Version: 0.284
Two unrelated families reported with bi-allelic variants causing fetal akinesia sequence, of which hydrops is a feature. Note gene is also associated with a less severe phenotype, congenital myasthenic syndrome 10 (hydrops is not a feature).Created: 30 Dec 2019, 5:30 a.m. | Last Modified: 30 Dec 2019, 5:30 a.m.
Panel Version: 0.58
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fetal akinesia deformation sequence 3, MIM# 618389
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Fetal akinesia deformation sequence 3, MIM# 618389
- 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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DOK7 were set to 31880392; 19261599
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dok7 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence 3, MIM# 618389 to Fetal akinesia deformation sequence 3, MIM# 618389
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dok7 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence 3, MIM# 618389 to Fetal akinesia deformation sequence 3, MIM# 618389
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DOK7 were changed from to Fetal akinesia deformation sequence 3, MIM# 618389
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DOK7 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: DOK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dok7 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DOK7 was added gene: DOK7 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DOK7 was set to Unknown