DMPK

DM1 protein kinase
OMIM: 605377, ClinGen, DECIPHER

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 0.324	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 1.2302	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 1.63	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 0.278	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 1.313	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 BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 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 1.2302	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 1.63	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 1.42 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 0.168	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Myotonic dystrophy 1 MIM#160900 Tags adult-onset paediatric-onset