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| Malformations of cortical development v3.11 | CTNNA2 | Arina Puzriakova Tag Q3_21_rating was removed from gene: CTNNA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.11 | CTNNA2 | Arina Puzriakova edited their review of gene: CTNNA2: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v3.10 | CTNNA2 |
Arina Puzriakova Source Expert Review Green was added to CTNNA2. Source NHS GMS was added to CTNNA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Malformations of cortical development v2.72 | CTNNA2 | Arina Puzriakova Tag Q3_21_rating tag was added to gene: CTNNA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.72 | CTNNA2 | Arina Puzriakova Classified gene: CTNNA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.72 | CTNNA2 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). CTNNA2 is associated with a relevant phenotype in OMIM (MIM# 618174) and G2P ('probable' disease confidence rating). There is sufficient evidence to rate this gene as Green at the next GMS panel update - 13 patients from 3 unrelated families, pachygyria without posterior-anterior gradient or focal dysplasias was common to all. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.72 | CTNNA2 | Arina Puzriakova Gene: ctnna2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.71 | CTNNA2 | Arina Puzriakova Phenotypes for gene: CTNNA2 were changed from Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 to Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.11 | CTNNA2 |
Zornitza Stark gene: CTNNA2 was added gene: CTNNA2 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNNA2 were set to 30013181 Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 Review for gene: CTNNA2 was set to GREEN gene: CTNNA2 was marked as current diagnostic Added comment: 13 children from three unrelated families reported. Sources: Expert list |
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