Variant: rs777218310 

    present in Gene: ECHS1
    present in Chromosome: 10
    Position on Chromosome: 133369907
    Alleles of this Variant: TA/-

rs777218310 in ECHS1 gene and Dysmorphic features PMID 25393721 2015 ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.

PMID 25125611 2014 ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

PMID 26000322 2015 Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

PMID 28039521 2017 ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention.

PMID 26099313 2015 Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.

PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 28202214 2017 Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.

PMID 27221955 2016 Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

PMID 26920905 2016 ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.

PMID 28755360 2018 Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.

PMID 27905109 2017 A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency.

PMID 26081110 2015 Clinical and biochemical characterization of four patients with mutations in ECHS1.

PMID 27090768 2016 Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.

PMID 28409271 2017 Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

rs777218310 in ECHS1 gene and Multiple congenital anomalies PMID 28755360 2018 Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.

PMID 26081110 2015 Clinical and biochemical characterization of four patients with mutations in ECHS1.

PMID 28202214 2017 Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.

PMID 27090768 2016 Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.

PMID 26000322 2015 Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

PMID 28039521 2017 ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention.

PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 28409271 2017 Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

PMID 26099313 2015 Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.

PMID 26920905 2016 ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.

PMID 27221955 2016 Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

PMID 27905109 2017 A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency.

PMID 25125611 2014 ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

PMID 25393721 2015 ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.

rs777218310 in ECHS1 gene and Muscle hypotonia PMID 27221955 2016 Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

PMID 27090768 2016 Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.

PMID 28755360 2018 Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.

PMID 28409271 2017 Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

PMID 27905109 2017 A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency.

PMID 28202214 2017 Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.

PMID 25393721 2015 ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.

PMID 26099313 2015 Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.

PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 26920905 2016 ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.

PMID 28039521 2017 ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention.

PMID 26081110 2015 Clinical and biochemical characterization of four patients with mutations in ECHS1.

PMID 25125611 2014 ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

PMID 26000322 2015 Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.