Activity
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| Adult onset leukodystrophy v4.3 | GCDH |
Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: GCDH. Tag Q3_23_MOI was removed from gene: GCDH. |
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| Adult onset leukodystrophy v4.3 | GCDH | Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to greenand the mode of inheritance set to'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v4.3 | GCDH | Achchuthan Shanmugasundram reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v4.2 | GCDH |
Achchuthan Shanmugasundram Source NHS GMS was added to GCDH. Source Expert Review Green was added to GCDH. Mode of inheritance for gene GCDH was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Adult onset leukodystrophy v3.16 | GCDH |
Sarah Leigh Tag Q3_23_promote_green tag was added to gene: GCDH. Tag Q3_23_MOI tag was added to gene: GCDH. |
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| Adult onset leukodystrophy v3.16 | GCDH | Sarah Leigh edited their review of gene: GCDH: Added comment: GCDH variants are associated with Glutaricaciduria, type I (OMIM:231670) and as definitive Gen2Phen gene for the same condition. Although OMIM:231670 usually manifests in infancy, four unrelated cases, including white matter involvement, have been reported with an age of onset of 16 to 35 years (15985591;12473778; https://doi.org/10.1002/mds.10442).; Changed rating: GREEN; Changed publications to: 15985591, 12473778, https://doi.org/10.1002/mds.10442; Changed phenotypes to: Glutaricaciduria, type I, OMIM:231670; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v3.16 | GCDH |
Sarah Leigh Added comment: Comment on publications: Publication not in PUBMED: https://doi.org/10.1002/mds.10442 "Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl" Emilio Fernández-Álvarez MD, PhD, Angeles García-Cazorla MD, Anna Sans MD, Cristina Boix PhD, María Antonia Vilaseca PhD, Christianne Busquets PhD, Antonia Ribes PhD First published: 01 April 2003 |
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| Adult onset leukodystrophy v3.16 | GCDH | Sarah Leigh Publications for gene: GCDH were set to 15985591 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v3.15 | GCDH | Sarah Leigh Phenotypes for gene: GCDH were changed from Glutaric aciduria, type I 231670 to Glutaricaciduria, type I, OMIM:231670; glutaryl-CoA dehydrogenase deficiency, MONDO:0009281 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v3.14 | GCDH | Sarah Leigh Classified gene: GCDH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v3.14 | GCDH | Sarah Leigh Gene: gcdh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v1.4 | GCDH |
Zornitza Stark gene: GCDH was added gene: GCDH was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCDH were set to 15985591 Phenotypes for gene: GCDH were set to Glutaric aciduria, type I 231670 Review for gene: GCDH was set to AMBER Added comment: Two unrelated individuals reported with late-onset neurological disease including leukodystrophy. Note typical GA Type I has onset before the age of 2 years, and leukodystrophy is not a prominent feature. Sources: Expert list |
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