Childhood onset dystonia, chorea or related movement disorder
Gene: L2HGDH
Comment on list classification: As reviewed by Zornitza Stark, there are four unrelated cases with dystonia as a feature of the condition and hence this gene can be promoted to green rating in the next GMS review.Created: 9 Aug 2023, 6:47 p.m. | Last Modified: 9 Aug 2023, 6:47 p.m.
Panel Version: 3.27
PMID:15824270 - A 15 year-old boy with L-2-hydroxyglutaric aciduria was reported with early infantile-onset progressive psychomotor regression, mild choreodystonia affecting the distal part of the upper limbs, pyramidal signs, and epilepsy.
PMID:18780161 - Of seven patients from three unrelated Tunisian families with L-2-hydroxyglutaric aciduria and with homozygous variants in L2HGDH gene, three patients from two different families had dystonia. The age of onset of the disorder in these patients is around six years.
PMID:24753671 - Two siblings (13 and 16 years of age with disease onset at 10 years of age) were reported with dystonia diagnosed by classical neuroimaging findings with elevated urinary 2 hydroxyglutaric acid.Created: 9 Aug 2023, 6:45 p.m. | Last Modified: 10 Aug 2023, 4:42 p.m.
Panel Version: 3.38
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
L-2-hydroxyglutaric aciduria, OMIM:236792
Publications
Four families with dystonia as a feature of the condition.Created: 6 Sep 2020, 8:35 a.m. | Last Modified: 6 Sep 2020, 8:35 a.m.
Panel Version: 1.49
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
L-2-hydroxyglutaric aciduria MIM#236792
Publications
Variants in this GENE are reported as part of current diagnostic practice
Confirmed Amber rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Another metabolic disorder, movements may be part of phenotype but unlikely to be presenting phenotype.Created: 12 Dec 2019, 3:45 p.m. | Last Modified: 12 Dec 2019, 3:45 p.m.
Panel Version: 0.258
Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust. Requires clinical input.Created: 6 Dec 2019, 5:07 p.m. | Last Modified: 6 Dec 2019, 5:07 p.m.
Panel Version: 0.14
Phenotype apears to include ataxia/dystonia. >3 families reported.Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Tag Q3_23_promote_green tag was added to gene: L2HGDH.
Gene: l2hgdh has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: L2HGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: L2HGDH were changed from L-2-hydroxyglutaric aciduria, 236792 to L-2-hydroxyglutaric aciduria, OMIM:236792
Publications for gene: L2HGDH were set to
Gene: l2hgdh has been classified as Amber List (Moderate Evidence).
Source South West GLH was added to L2HGDH. Mode of inheritance for gene L2HGDH was changed from to Unknown Added phenotypes L-2-hydroxyglutaric aciduria, 236792 for gene: L2HGDH
gene: L2HGDH was added gene: L2HGDH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: L2HGDH was set to