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| Ataxia and cerebellar anomalies - narrow panel v3.30 | PRDM13 | Eleanor Williams Tag Q3_22_rating was removed from gene: PRDM13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.30 | PRDM13 | Eleanor Williams reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.29 | PRDM13 |
Eleanor Williams Source Expert Review Green was added to PRDM13. Source NHS GMS was added to PRDM13. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ataxia and cerebellar anomalies - narrow panel v2.302 | PRDM13 | Arina Puzriakova Classified gene: PRDM13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.302 | PRDM13 | Arina Puzriakova Added comment: Comment on list classification: This gene should be promoted to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.302 | PRDM13 | Arina Puzriakova Gene: prdm13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.301 | PRDM13 | Arina Puzriakova Tag Q3_22_rating tag was added to gene: PRDM13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.301 | PRDM13 | Arina Puzriakova Entity copied from Cerebellar hypoplasia v1.64 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.301 | PRDM13 |
Arina Puzriakova gene: PRDM13 was added gene: PRDM13 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green,Literature Mode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM13 were set to 35390279; 34730112 Phenotypes for gene: PRDM13 were set to Pontocerebellar hypoplasia, type 17, OMIM:619909; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, OMIM:619761 |
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