Activity
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| Ataxia and cerebellar anomalies - narrow panel v8.25 | HEATR5B | Arina Puzriakova edited their review of gene: HEATR5B: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.25 | HEATR5B | Arina Puzriakova changed review comment from: Comment on list classification: There are three unrelated cases (2 published, 1 NHS-diagnosed) with pontocerebellar hypoplasia due to biallelic LOF variants in this gene. Tagging for additional expert review to gain approval for including the unpublished case as evidence to promote this gene to Green.; to: Comment on list classification: There are three unrelated cases (2 published, 1 NHS-diagnosed) with pontocerebellar hypoplasia due to biallelic LOF variants in this gene. Tagging for expert review to gain GMS approval for including the unpublished case as evidence to promote this gene to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.25 | HEATR5B | Arina Puzriakova Classified gene: HEATR5B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.25 | HEATR5B | Arina Puzriakova Added comment: Comment on list classification: There are three unrelated cases (2 published, 1 NHS-diagnosed) with pontocerebellar hypoplasia due to biallelic LOF variants in this gene. Tagging for additional expert review to gain approval for including the unpublished case as evidence to promote this gene to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.25 | HEATR5B | Arina Puzriakova Gene: heatr5b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.24 | HEATR5B |
Arina Puzriakova Tag watchlist was removed from gene: HEATR5B. Tag Q3_25_promote_green tag was added to gene: HEATR5B. Tag Q3_25_expert_review tag was added to gene: HEATR5B. |
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| Ataxia and cerebellar anomalies - narrow panel v8.24 | HEATR5B | Arina Puzriakova commented on gene: HEATR5B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.221 | HEATR5B | Ivone Leong Entity copied from Intellectual disability v3.1188 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.221 | HEATR5B |
Ivone Leong gene: HEATR5B was added gene: HEATR5B was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber,Literature watchlist tags were added to gene: HEATR5B. Mode of inheritance for gene: HEATR5B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEATR5B were set to 33824466 Phenotypes for gene: HEATR5B were set to pontocerebellar hypoplasia, MONDO:0020135; intellectual disability, MONDO:0001071; seizures |
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