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Bilateral congenital or childhood onset cataracts v4.14 | LETM1 |
Arina Puzriakova Tag Q3_23_promote_green was removed from gene: LETM1. Tag Q3_23_MOI was removed from gene: LETM1. |
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Bilateral congenital or childhood onset cataracts v4.14 | LETM1 | Arina Puzriakova reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v4.13 | LETM1 |
Arina Puzriakova Source NHS GMS was added to LETM1. Source Expert Review Green was added to LETM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Bilateral congenital or childhood onset cataracts v4.2 | LETM1 | Sarah Leigh Tag Q3_23_NHS_review was removed from gene: LETM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v4.2 | LETM1 | Sarah Leigh Entity copied from Possible mitochondrial disorder - nuclear genes v3.42 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v4.2 | LETM1 |
Sarah Leigh gene: LETM1 was added gene: LETM1 was added to Bilateral congenital or childhood onset cataracts. Sources: Expert Review,Expert Review Amber Q3_23_promote_green, Q3_23_NHS_review, Q3_23_MOI tags were added to gene: LETM1. Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LETM1 were set to 36055214; 33815143 Phenotypes for gene: LETM1 were set to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 |