LARS2

leucyl-tRNA synthetase 2, mitochondrial
OMIM: 604544, ClinGen, DECIPHER

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green LARS2 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 1.27	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Perrault syndrome 4, MIM# 615300
Green LARS2 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.328	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021
Green LARS2 in Mendeliome Version 1.3795	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Perrault syndrome 4 Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021 Leukodystrophy
Green LARS2 in Mitochondrial disease Level 2: Metabolic disorders Version 0.1275 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Phenotypes Perrault syndrome 4 Hydrops, lactic acidosis, and sideroblastic anaemia, MIM# 617021 Leukodystrophy
Green LARS2 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.304	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Perrault syndrome 4, MIM#615300
Green LARS2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.497	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Perrault syndrome 4, MIM# 615300 Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021
Green LARS2 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.158 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Perrault syndrome 4 Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021 Leukodystrophy
Green LARS2 in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.153 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy
Red LARS2 in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 1.129 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Perrault syndrome 4 MIM#615300
Green LARS2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Perrault syndrome 4, 615300 (3)
Green LARS2 in Primary Ovarian Insufficiency_Premature Ovarian Failure Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 0.391	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Perrault syndrome 4 615300
Green LARS2 in Additional findings_Paediatric Level 2: Screening Version 0.278	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Perrault syndrome
Amber LARS2 in Red cell disorders Level 2: Haematological disorders Version 1.39	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Phenotypes Hydrops, lactic acidosis, and sideroblastic anaemia MIM# 617021
Green LARS2 in Fetal anomalies Version 1.481	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
Green LARS2 in Prepair 1000+ Level 2: Screening Version 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hydrops, lactic acidosis, and sideroblastic anaemia MIM#617021 Perrault syndrome 4 MIM#615300
Red LARS2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021 Perrault syndrome 4, MIM# 615300
Green LARS2 in Infertility and Recurrent Pregnancy Loss Version 1.56	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Perrault syndrome 4, MIM# 615300