DSP

desmoplakin
OMIM: 125647, ClinGen, DECIPHER

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green DSP in Arrhythmogenic Cardiomyopathy Level 2: Cardiovascular disorders Version 1.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 8, MIM# 607450 Carvajal syndrome
Green DSP in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821 Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676
Green DSP in Desmosomal disorders Level 2: Dermatological disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green DSP in Epidermolysis bullosa Level 2: Dermatological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa, lethal acantholytic, MIM# 609638
Red DSP in Hypertrophic cardiomyopathy Level 2: Cardiovascular disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red ClinGen Phenotypes Hypertrophic cardiomyopathy, MONDO:0005045 Tags disputed
Green DSP in Incidentalome Version 1.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 8, MIM# 607450 Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821 Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676 Epidermolysis bullosa, lethal acantholytic, MIM# 609638 Tags cardiac
Green DSP in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green DSP in Additional findings_Adult Level 2: Screening Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Phenotypes Arrhythmogenic right ventricular dysplasia 8, MIM# 607450 Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676 Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821
Green DSP in Ectodermal Dysplasia Level 2: Dermatological disorders Version 1.0	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Keratosis palmoplantaris striata II, Epidermolysis bullosa, lethal acantholytic
Green DSP in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Green DSP in Hair disorders Level 2: Dermatological disorders Version 1.0	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Skin fragility-woolly hair syndrome, 607655 Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821
Green DSP in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 1.0	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH NHS GMS Phenotypes Arrhythmogenic right ventricular dysplasia 8 Dilated cardiomyopathy with woolly hair and keratoderma
Amber DSP in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BabySeq Category B gene BabySeq Category A gene Phenotypes Arrhythmogenic right ventricular dysplasia/cardiomyopathy Epidermolysis bullosa, lethal acantholytic
Green DSP in Incidentalome_PREGEN_DRAFT Version 1.0	1 review	Unknown	Sources NSW Health Pathology Expert Review Green
Green DSP in Fetal anomalies Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821 Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676 Epidermolysis bullosa, lethal acantholytic, MIM# 609638
Green DSP in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cardiomyopathy, dilated, with woolly hair and keratoderma (MIM#605676) Epidermolysis bullosa, lethal acantholytic (MIM#609638)
Amber DSP in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BabySeq Category A gene BabySeq Category B gene BeginNGS Phenotypes Arrhythmogenic right ventricular dysplasia 8, MIM# 607450 Tags treatable cardiac
Green DSP in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821 Carvajal syndrome Arrhythmogenic right ventricular dysplasia 8, MIM# 607450 Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676