DMPK

DM1 protein kinase
OMIM: 605377, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green DMPK in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	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 1.1891	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 0.6063	review	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 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Myotonic dystrophy 1
Green DMPK in Fetal anomalies Version 1.255	review	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 BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Myotonic dystrophy 1, MIM# 160900
Green DM1 STR in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Myotonic dystrophy 1 MIM#160900
Green DM1 STR in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Myotonic dystrophy 1 MIM#160900
Green DM1 STR in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.27 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Myotonic dystrophy 1 MIM#160900
Green DM1 STR in Repeat Disorders Version 0.167	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Myotonic dystrophy 1 MIM#160900 Tags adult-onset paediatric-onset