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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