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 UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen 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 2.15 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
Green DST in Arthrogryposis Level 2: Neurology Version 10.9 Latest signed off version: v10.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Congenital myopathy 29 with contractures, OMIM:621510 congenital myopathy 29 with contractures, MONDO:0981030 Lethal congenital contracture syndrome 12, OMIM:621511 lethal congenital contracture syndrome 12, MONDO:0981031
Amber DST in Congenital myopathy Level 2: Neurology Version 7.46 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital myopathy 29 with contractures, OMIM:621510 congenital myopathy 29 with contractures, MONDO:0981030 Tags Q2_26_NHS_review Q3_25_promote_green
No list DST in Dilated and arrhythmogenic cardiomyopathy Level 2: Cardiology Version 4.1 Latest signed off version: v4.0 (6 May 2026) 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 7.11 Latest signed off version: v7.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Congenital myopathy 29 with contractures, OMIM:621510 congenital myopathy 29 with contractures, MONDO:0981030 Lethal congenital contracture syndrome 12, OMIM:621511 lethal congenital contracture syndrome 12, MONDO:0981031
Green DST in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.508	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 10.18 Latest signed off version: v10.0 (6 May 2026) 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
Green DST in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 8.2 Latest signed off version: v8.0 (6 May 2026) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Congenital myopathy 29 with contractures, OMIM:621510 congenital myopathy 29 with contractures, MONDO:0981030
Green DST in Hereditary neuropathy or pain disorder Level 2: Neurology Version 8.4 Latest signed off version: v8.0 (6 May 2026)	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 Neuropathy, hereditary sensory and autonomic, type VI, OMIM:614653 hereditary sensory and autonomic neuropathy type 6, MONDO:0013839