AARS1

alanyl-tRNA synthetase 1
OMIM: 601065, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Amber AARS1 in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Trichothiodystrophy, MONDO:0018053 Trichothiodystrophy 8, nonphotosensitive 619691
Green AARS1 in Mendeliome Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 29, MIM# 616339 Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287 Spastic paraplegia 85, autosomal recessive, MIM# 619686 Ataxia, sensory, 1, autosomal dominant, MIM# 608984 Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661
Green AARS1 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Epileptic encephalopathy, early infantile, 29, MIM# 616339
Green AARS1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 29, MIM# 616339
Green AARS1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Epileptic encephalopathy, early infantile, 29, MIM# 616339
Green AARS1 in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Epileptic encephalopathy, early infantile, 29, MIM#616339
Green AARS1 in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Phenotypes Charcot Marie Tooth disease, axonal, type 2N, 613287 HMSN, dHMN/dSMA
Green AARS1 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease
Green AARS1 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 29, OMIM:616339 Developmental and epileptic encephalopathy, 29, MONDO:0014593 Tags new gene name
Red AARS1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Epileptic encephalopathy, early infantile, 29, MIM# 616339 Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287