Hydrops fetalis
Gene: DMPKEnsemblGeneIds (GRCh38): ENSG00000104936
EnsemblGeneIds (GRCh37): ENSG00000104936
OMIM: 605377, Gene2Phenotype
DMPK is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Reduced fetal movements and hydrops reported. Note triplet expansion may not be tractable depending on the assay used.
Sources: Expert listCreated: 13 Aug 2020, 4:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myotonic dystrophy 1, MIM# 160900
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Myotonic dystrophy 1, MIM# 160900
- Tags
- OMIM
- 605377
- Clinvar variants
- Variants in DMPK
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dmpk has been classified as Green List (High Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag STR tag was added to gene: DMPK.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dmpk has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DMPK was added gene: DMPK was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DMPK were set to 9134395 Phenotypes for gene: DMPK were set to Myotonic dystrophy 1, MIM# 160900 Review for gene: DMPK was set to GREEN