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| Repeat Disorders v0.262 | NAXE_NME_GGGCC | Bryony Thompson Marked STR: NAXE_NME_GGGCC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.262 | NAXE_NME_GGGCC | Bryony Thompson Str: naxe_nme_gggcc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.262 | NAXE_NME_GGGCC | Bryony Thompson Classified STR: NAXE_NME_GGGCC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.262 | NAXE_NME_GGGCC | Bryony Thompson Str: naxe_nme_gggcc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.261 | NAXE_NME_GGGCC |
Bryony Thompson STR: NAXE_NME_GGGCC was added STR: NAXE_NME_GGGCC was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: NAXE_NME_GGGCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: NAXE_NME_GGGCC were set to 39455596 Phenotypes for STR: NAXE_NME_GGGCC were set to encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0020781 Review for STR: NAXE_NME_GGGCC was set to AMBER STR: NAXE_NME_GGGCC was marked as clinically relevant STR: NAXE_NME_GGGCC was marked as current diagnostic Added comment: A single case with a homozygous (result of UPD) repeat expansion in the promoter that leads to methylation of the promoter (identified by long-read sequencing). Biallelic loss of function variants in this gene cause a mitochondrial disease. Sources: Literature |
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