Childhood onset dystonia, chorea or related movement disorder

Gene: L2HGDH

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 4 May 2024, 6:04 p.m. | Last Modified: 4 May 2024, 6:06 p.m.

Panel Version: 4.3

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

• 15824270
• 18780161
• 24753671

Green List (high evidence)

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

• 24753671
• 18780161
• 15824270
• 10399870

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

Red List (low evidence)

I don't know

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