DST

dystonin
OMIM: 113810, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green DST in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes congenital myopathy MONDO:0019952, DST-related
Green DST 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 simplex, autosomal recessive 2, MIM# 615425
Green DST in Mendeliome Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653 Epidermolysis bullosa simplex, autosomal recessive 2, MIM#615425 congenital myopathy MONDO:0019952, DST-related
Green DST in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes congenital myopathy MONDO:0019952, DST-related
Green DST in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Royal Melbourne Hospital Expert Review Green Expert Review Green Literature Phenotypes Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653 MONDO:0013839 HSAN/SFN
Green DST in Pain syndromes Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Neuropathy, hereditary sensory and autonomic, type VI MIM#614653
Green DST in Autonomic neuropathy Level 2: Autonomic Neuropathy Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes OMIM# 614653 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI HSAN6