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| Cytopenia - NOT Fanconi anaemia v1.57 | AK2 | Arina Puzriakova Tag for-review was removed from gene: AK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.57 | AK2 | Arina Puzriakova commented on gene: AK2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.56 | AK2 |
Arina Puzriakova Source Expert Review Green was added to AK2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v1.9 | AK2 | Arina Puzriakova Phenotypes for gene: AK2 were changed from Reticular dysgenesis, MIM# 267500 to Reticular dysgenesis, 267500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.8 | AK2 | Arina Puzriakova Added comment: Comment on publications: Added publications to support association with this phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.8 | AK2 | Arina Puzriakova Publications for gene: AK2 were set to 19043416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.7 | AK2 | Arina Puzriakova Classified gene: AK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.7 | AK2 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene GREEN at the next major review - >3 unrelated cases with reticular dysgenesis (leukopenia is part of the phenotype) due to biallelic variants in AK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.7 | AK2 | Arina Puzriakova Gene: ak2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.6 | AK2 | Arina Puzriakova Tag for-review tag was added to gene: AK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.6 | AK2 |
Zornitza Stark gene: AK2 was added gene: AK2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Expert list Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AK2 were set to 19043416 Phenotypes for gene: AK2 were set to Reticular dysgenesis, MIM# 267500 Review for gene: AK2 was set to GREEN gene: AK2 was marked as current diagnostic Added comment: Well established gene-disease association. Sources: Expert list |
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