| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Prepair 1000+ v1.2141 | APC2 | Seb Lunke Classified gene: APC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2141 | APC2 | Seb Lunke Gene: apc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.2140 | APC2 | Seb Lunke Tag for review was removed from gene: APC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1575 | APC2 | Lilian Downie Marked gene: APC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1575 | APC2 | Lilian Downie Added comment: Comment when marking as ready: Upgrade to green at review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1575 | APC2 | Lilian Downie Gene: apc2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1575 | APC2 | Lilian Downie Tag for review tag was added to gene: APC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1568 | APC2 |
Andrew Coventry gene: APC2 was added gene: APC2 was added to Prepair 1000+. Sources: Literature Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APC2 were set to 31585108 Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10 MIM#618677; Intellectual developmental disorder, autosomal recessive 74 MIM#617169; Lissencephaly spectrum disorders MONDO:0018838 Review for gene: APC2 was set to GREEN Added comment: 12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum. Definitive classification by ClinGen. Mouse model present. Note: Gene has also been implicated in Sotos Syndrome Type 3 which features intellectual disability and characteristic facial features Sources: Literature |
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