| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Speech apraxia v1.6 | ANK2 | Zornitza Stark Marked gene: ANK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | ANK2 | Zornitza Stark Gene: ank2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | ANK2 | Zornitza Stark Phenotypes for gene: ANK2 were changed from Cardiac arrhythmia, ankyrin-B-relatedNeurodevelopmental disorder (MONDO:0700092), gene-related to Neurodevelopmental disorder (MONDO:0700092), gene-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.5 | ANK2 | Zornitza Stark Classified gene: ANK2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.5 | ANK2 | Zornitza Stark Gene: ank2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.3 | ANK2 |
Thomas Scerri changed review comment from: An in-house (as yet unpublished) CAS proband with a pathogenic variant. Sources: Expert Review; to: An in-house (as yet unpublished) CAS proband with a pathogenic variant. Sources: Expert list, Expert Review |
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| Speech apraxia v1.3 | ANK2 | Thomas Scerri edited their review of gene: ANK2: Changed phenotypes: Cardiac arrhythmia, ankyrin-B-related, MIM# 600919, Long QT syndrome 4, MIM# 600919, Neurodevelopmental disorder (MONDO:0700092), ANK2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.3 | ANK2 | Thomas Scerri edited their review of gene: ANK2: Changed phenotypes: Cardiac arrhythmia, ankyrin-B-related, MIM# 600919, Long QT syndrome 4, MIM# 600919, Neurodevelopmental disorder (MONDO:0700092), gene-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.3 | ANK2 |
Thomas Scerri gene: ANK2 was added gene: ANK2 was added to Speech apraxia. Sources: Expert Review Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANK2 were set to 37195288 Phenotypes for gene: ANK2 were set to Cardiac arrhythmia, ankyrin-B-relatedNeurodevelopmental disorder (MONDO:0700092), gene-related Review for gene: ANK2 was set to RED Added comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. Sources: Expert Review |
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