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| Early onset or syndromic epilepsy v4.110 | ATP5O | Arina Puzriakova Tag Q2_23_promote_green was removed from gene: ATP5O. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.110 | ATP5O | Arina Puzriakova commented on gene: ATP5O: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.109 | ATP5O |
Arina Puzriakova Source Expert Review Green was added to ATP5O. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v4.76 | ATP5O | Sarah Leigh Phenotypes for gene: ATP5O were changed from Mitochondrial complex V (ATP synthase) deficiency to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.8 | ATP5O | Arina Puzriakova Entity copied from Mitochondrial disorder with complex V deficiency v2.5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.8 | ATP5O |
Arina Puzriakova gene: ATP5O was added gene: ATP5O was added to Early onset or syndromic epilepsy. Sources: NHS GMS,Expert Review Amber new-gene-name, Q2_23_promote_green tags were added to gene: ATP5O. Mode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP5O were set to 34954817; 35621276 Phenotypes for gene: ATP5O were set to Mitochondrial complex V (ATP synthase) deficiency |
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