DST

dystonin
OMIM: 113810, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red DST in Familial dysautonomia Version 1.18	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Neuropathy, hereditary sensory and autonomic, type VI 614653
Green DST in Epidermolysis bullosa Level 3: Skin fragility disorders Level 2: Dermatological disorders Version 1.12	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Epidermolysis bullosa simplex, autosomal recessive 2, 615425 Epidermolysis bullosa simplex
Green DST in Epidermolysis bullosa and congenital skin fragility Level 2: Dermatology Version 2.13 Latest signed off version: v2.2 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epidermolysis bullosa simplex, autosomal recessive 2, OMIM:615425
Amber DST in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes arthrogryposis, MONDO:0859248 cardiomyopathy, MONDO:0004994 congenital myopathy, MONDO:0019952 Tags Q3_25_promote_green
Amber DST in Congenital myopathy Level 2: Neurology Version 6.45 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes arthrogryposis, MONDO:0859248 cardiomyopathy, MONDO:0004994 congenital myopathy, MONDO:0019952 Tags Q3_25_promote_green
No list DST in Dilated and arrhythmogenic cardiomyopathy Level 2: Cardiology Version 3.11 Latest signed off version: v3.0 (30 Apr 2025) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Literature Phenotypes arthrogryposis, MONDO:0859248 cardiomyopathy, MONDO:0004994 congenital myopathy, MONDO:0019952 Tags curated_removed
Green DST in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.138 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Arthrogryposis multiplex congenita, MONDO:0015168 arthrogryposis, MONDO:0859248 cardiomyopathy, MONDO:0004994 congenital myopathy, MONDO:0019952
Green DST in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS South West GLH Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hereditary Sensory and Autonomic Neuropathy, Type VI ?Neuropathy, hereditary sensory and autonomic, type VI
Red DST in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Neuropathy, hereditary sensory and autonomic, type VI, 614653Epidermolysis bullosa simplex, sutosomal recessive 2, 615425
Amber DST in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.96 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes arthrogryposis, MONDO:0859248 cardiomyopathy, MONDO:0004994 congenital myopathy, MONDO:0019952 Tags Q3_25_promote_green
Green DST in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen South West GLH London North GLH Illumina TruGenome Clinical Sequencing Services NHS GMS London North GLH NHS GMS South West GLH Phenotypes Hereditary Sensory and Autonomic Neuropathy, Type VI ?Neuropathy, hereditary sensory and autonomic, type VI