DMPK

DM1 protein kinase
OMIM: 605377, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green DMPK in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myotonic dystrophy 1, MIM# 160900
Tags
  • STR

No list DMPK in Mendeliome


Version 2.0

1 review Unknown
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Tags
  • STR

No list DMPK in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Genetic Health Queensland
Phenotypes
  • Myotonic dystrophy 1, MIM#160900
Tags
  • STR

Green DMPK in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Myotonic dystrophy 1

Green DMPK in Fetal anomalies


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Myotonic dystrophy 1, MIM#160900
Tags
  • STR

Red DMPK in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Myotonic dystrophy 1, MIM# 160900

Green DMPK_DM1_CTG STR in Cataract


Level 2: Ophthalmological disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Myotonic dystrophy 1 MIM#160900

Green DMPK_DM1_CTG STR in Mendeliome


Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myotonic dystrophy 1 MIM#160900

Green DMPK_DM1_CTG STR in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myotonic dystrophy 1 MIM#160900

Green DMPK_DM1_CTG STR in Skeletal Muscle Channelopathies


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Myotonic dystrophy 1 MIM#160900
Tags
  • adult-onset
  • paediatric-onset

Green DMPK_DM1_CTG STR in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myotonic dystrophy 1 MIM#160900

Green DMPK_DM1_CTG STR in Repeat Disorders


Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myotonic dystrophy 1 MIM#160900
Tags
  • adult-onset
  • paediatric-onset