YARS

tyrosyl-tRNA synthetase
OMIM: 603623, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red YARS in Hyperinsulinism Level 2: Endocrine disorders Version 1.49	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Green YARS in Mendeliome Version 1.3512	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 YARS in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.238	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Green YARS in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418
Green YARS in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.68 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323 MONDO:0012012