DMD

dystrophin
OMIM: 300377, ClinGen, DECIPHER

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green DMD in Autism Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green DMD in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 3B (MIM#302045)
Green DMD in Mendeliome Version 2.0	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Becker muscular dystrophy MIM@300376 XLR Cardiomyopathy, dilated, 3B MIM#302045 XL Duchenne muscular dystrophy MIM#310200 Tags SV/CNV
Green DMD in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Duchenne muscular dystrophy (MIM#310200) Becker muscular dystrophy (MIM#300376) Tags SV/CNV
Green DMD in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Duchenne muscular dystrophy MIM#310200 Tags SV/CNV
Green DMD in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Duchenne muscular dystrophy 310200 Becker muscular dystrophy 300376
Green DMD in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	4 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Becker muscular dystrophy 300376
Green DMD in Gastrointestinal neuromuscular disease Level 2: Gastroenterological disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Duchenne muscular dystrophy, MIM# 310200 Tags SV/CNV
Green DMD in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Duchenne muscular dystrophy, 310200 (3)
Green DMD in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green South West GLH NHS GMS Phenotypes Duchenne muscular dystrophy, 310200 Cardiomyopathy, dilated, 3B Dilated Cardiomyopathy, X-Linked Becker muscular dystrophy, 300376
Amber DMD in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber BabySeq Category B gene BabySeq Category A gene Phenotypes Becker muscular dystrophy Duchenne muscular dystrophy Cardiomyopathy, dilated
Green DMD in Prepair 1000+ Level 2: Screening Version 3.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Becker muscular dystrophy MIM#300376 Duchenne muscular dystrophy MIM#310200 Tags SV/CNV
Amber DMD in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber BabySeq Category A gene BabySeq Category B gene BeginNGS Phenotypes Duchenne muscular dystrophy MIM#310200 Tags neurological
Green DMD in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 3B (MIM#302045)
Green DMD in Prepair 500+ Level 2: Screening Version 3.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Duchenne muscular dystrophy MIM#310200
Amber DMD_DMD_GAA STR in Repeat Disorders Version 1.0	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Phenotypes Duchenne muscular dystrophy MIM#310200 Becker muscular dystrophy MIM#300376 Tags adult-onset paediatric-onset