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| Severe microcephaly v4.8 | NAPB | Arina Puzriakova Phenotypes for gene: NAPB were changed from Early infantile epileptic encephalopathy to Developmental and epileptic encephalopathy 107, OMIM:620033 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v3.5 | NAPB |
Arina Puzriakova Tag Q2_22_rating was removed from gene: NAPB. Tag Q2_22_NHS_review was removed from gene: NAPB. |
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| Severe microcephaly v3.5 | NAPB | Arina Puzriakova edited their review of gene: NAPB: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v3.4 | NAPB |
Arina Puzriakova Source Expert Review Green was added to NAPB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v2.297 | NAPB | Arina Puzriakova Entity copied from Genetic epilepsy syndromes v2.506 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.297 | NAPB |
Arina Puzriakova gene: NAPB was added gene: NAPB was added to Severe microcephaly. Sources: Expert Review Amber,NHS GMS Q2_22_rating, Q2_22_NHS_review tags were added to gene: NAPB. Mode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAPB were set to 28097321; 33189936; 26235277; 21040848 Phenotypes for gene: NAPB were set to Early infantile epileptic encephalopathy Penetrance for gene: NAPB were set to unknown |
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