YARS1

tyrosyl-tRNA synthetase 1
OMIM: 603623, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green YARS1 in Cholestasis Level 2: Gastroenterological disorders Version 2.1 Component of the following Super Panels: Liverome Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Red YARS1 in Hyperinsulinism Level 2: Endocrine disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Green YARS1 in Mendeliome Version 2.268	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323 MONDO:0012012 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Green YARS1 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 2.8	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Green YARS1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Green YARS1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.41	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Green YARS1 in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.10 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Phenotypes Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323 MONDO:0012012
Green YARS1 in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 1.7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418