Activity

Filter

Cancel
Date Panel Item Activity
16 actions
Childhood onset dystonia, chorea or related movement disorder v3.38 L2HGDH Achchuthan Shanmugasundram changed review comment from: 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.

PMID:24753671 - Two siblings were reported with dystonia diagnosed by classical neuroimaging findings with elevated urinary 2 hydroxyglutaric acid.; to: 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.
Childhood onset dystonia, chorea or related movement disorder v3.27 L2HGDH Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: L2HGDH.
Childhood onset dystonia, chorea or related movement disorder v3.27 L2HGDH Achchuthan Shanmugasundram Classified gene: L2HGDH as Amber List (moderate evidence)
Childhood onset dystonia, chorea or related movement disorder v3.27 L2HGDH Achchuthan Shanmugasundram Added comment: 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.
Childhood onset dystonia, chorea or related movement disorder v3.27 L2HGDH Achchuthan Shanmugasundram Gene: l2hgdh has been classified as Amber List (Moderate Evidence).
Childhood onset dystonia, chorea or related movement disorder v3.26 L2HGDH Achchuthan Shanmugasundram Mode of inheritance for gene: L2HGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v3.25 L2HGDH Achchuthan Shanmugasundram Phenotypes for gene: L2HGDH were changed from L-2-hydroxyglutaric aciduria, 236792 to L-2-hydroxyglutaric aciduria, OMIM:236792
Childhood onset dystonia, chorea or related movement disorder v3.24 L2HGDH Achchuthan Shanmugasundram Publications for gene: L2HGDH were set to
Childhood onset dystonia, chorea or related movement disorder v3.23 L2HGDH Achchuthan Shanmugasundram reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 15824270, 18780161, 24753671; Phenotypes: L-2-hydroxyglutaric aciduria, OMIM:236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v1.49 L2HGDH Zornitza Stark reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24753671, 18780161, 15824270, 10399870; Phenotypes: L-2-hydroxyglutaric aciduria MIM#236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset dystonia, chorea or related movement disorder v0.258 L2HGDH Louise Daugherty commented on gene: L2HGDH
Childhood onset dystonia, chorea or related movement disorder v0.14 L2HGDH Ellen McDonagh Classified gene: L2HGDH as Amber List (moderate evidence)
Childhood onset dystonia, chorea or related movement disorder v0.14 L2HGDH Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust. Requires clinical input.
Childhood onset dystonia, chorea or related movement disorder v0.14 L2HGDH Ellen McDonagh Gene: l2hgdh has been classified as Amber List (Moderate Evidence).
Childhood onset dystonia, chorea or related movement disorder v0.1 L2HGDH Ellen McDonagh 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
Childhood onset dystonia, chorea or related movement disorder v0.0 L2HGDH Ellen McDonagh 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