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Ataxia and cerebellar anomalies - narrow panel v3.30 | GEMIN5 | Eleanor Williams Tag Q2_21_rating was removed from gene: GEMIN5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v3.30 | GEMIN5 | Eleanor Williams reviewed gene: GEMIN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v3.29 | GEMIN5 |
Eleanor Williams Source Expert Review Green was added to GEMIN5. Source NHS GMS was added to GEMIN5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Ataxia and cerebellar anomalies - narrow panel v2.211 | GEMIN5 | Arina Puzriakova Entity copied from Intellectual disability v3.1145 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v2.211 | GEMIN5 |
Arina Puzriakova gene: GEMIN5 was added gene: GEMIN5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber,Literature Q2_21_rating tags were added to gene: GEMIN5. Mode of inheritance for gene: GEMIN5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GEMIN5 were set to 33963192 Phenotypes for gene: GEMIN5 were set to Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM:619333 |