AARS

alanyl-tRNA synthetase
OMIM: 601065, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Amber AARS in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 2.25 Latest signed off version: v2.7 (15 Oct 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes trichothiodystrophy, MONDO:0018053 Tags watchlist new-gene-name
Red AARS in Neuromuscular disorders Version 5.352 Latest signed off version: v5.43 (4 Mar 2020)	review	Unknown	Sources Expert Review Red Tags new-gene-name
Amber AARS in White matter disorders and cerebral calcification - narrow panel Version 1.240 Latest signed off version: v1.12 (2 Mar 2020) Component of the following Super Panels: White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Developmental and epileptic encephalopathy 29, OMIM:616339 Developmental and epileptic encephalopathy, 29, MONDO:0014593 Tags new-gene-name Q2_21_rating
Red AARS in Ataxia and cerebellar anomalies - narrow panel Version 2.300 Latest signed off version: v2.23 (8 Oct 2020) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287 Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 Tags new-gene-name
Green AARS in White matter disorders - adult onset Version 1.43 Latest signed off version: v1.25 (5 Aug 2021)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, 613287 Tags new-gene-name Q4_21_expert_review to_be_confirmed_NHSE
Red AARS in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.303	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red UKGTN Phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287 Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 Tags new-gene-name
Green AARS in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 2.315 Latest signed off version: v2.2 (2 Mar 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Developmental and epileptic encephalopathy 29, OMIM:616339 Developmental and epileptic encephalopathy, 29, MONDO:0014593 Tags new-gene-name
Red AARS in Neurodegenerative disorders - adult onset Version 2.275 Latest signed off version: v2.178 (5 Aug 2021)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH NHS GMS South West GLH Expert Review Red Phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287 Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 Tags new-gene-name
Amber AARS in Fetal anomalies Version 1.900 Latest signed off version: v1.92 (21 Aug 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes Developmental and epileptic encephalopathy 29, OMIM:616339 Developmental and epileptic encephalopathy, 29, MONDO:0014593 Tags new-gene-name
Red AARS in Paediatric motor neuronopathies Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.79 Latest signed off version: v1.30 (4 Mar 2020) Component of the following Super Panels: Hypotonic infant Neuromuscular disorders	review	Not set	Sources Expert Review Red Expert Tags new-gene-name
Amber AARS in DDG2P Version 2.76 Latest signed off version: v2.2 (13 Feb 2020) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Amber Phenotypes EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT. Tags new-gene-name
Green AARS in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.454	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287 Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 Tags new-gene-name
Green AARS in Genetic epilepsy syndromes Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 2.563 Latest signed off version: v2.2 (13 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 29, OMIM:616339 Developmental and epileptic encephalopathy, 29, MONDO:0014593 Tags new-gene-name
Green AARS in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.1659 Latest signed off version: v3.2 (13 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Developmental and epileptic encephalopathy 29, OMIM:616339 Developmental and epileptic encephalopathy, 29, MONDO:0014593 Tags new-gene-name
Amber AARS in Hereditary ataxia - adult onset Version 2.158 Latest signed off version: v2.13 (6 Oct 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London North GLH NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287 Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 Tags new-gene-name
Green AARS in Hereditary neuropathy NOT PMP22 copy number Version 1.103 Latest signed off version: v1.36 (5 Aug 2021)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center, Nijmegen South West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list London North GLH Illumina TruGenome Clinical Sequencing Services NHS GMS South West GLH NHS GMS London North GLH Phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287 Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 Tags new-gene-name
Green AARS in Severe Paediatric Disorders Version 1.127	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287 Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 Developmental and epileptic encephalopathy 29, OMIM:616339 Developmental and epileptic encephalopathy, 29, MONDO:0014593 Tags new-gene-name