| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Malformations of cortical development v3.3 | CASK | Arina Puzriakova Publications for gene: CASK were set to 21954287; 20595373; 32700313; 33090494; 33272775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.133 | CASK | Eleanor Williams Tag for-review was removed from gene: CASK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.131 | CASK | Sarah Leigh commented on gene: CASK: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.130 | CASK |
Eleanor Williams Source Expert Review Green was added to CASK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Malformations of cortical development v2.31 | CASK | Sarah Leigh Tag for-review tag was added to gene: CASK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.31 | CASK | Sarah Leigh edited their review of gene: CASK: Added comment: There is enough evidence for this gene to be rated GREEN at the next major review.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.31 | CASK | Sarah Leigh Classified gene: CASK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.31 | CASK | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Numerous variants and cases reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.31 | CASK | Sarah Leigh Gene: cask has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.30 | CASK | Sarah Leigh Publications for gene: CASK were set to 21954287; 20595373 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.29 | CASK | Sarah Leigh Phenotypes for gene: CASK were changed from Gyral simplification to Mental retardation and microcephaly with pontine and cerebellar hypoplasia OMIM:300749 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.28 | CASK | Sarah Leigh Publications for gene: CASK were set to PMID: 21954287, 20595373 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.24 | CASK |
Ian Berry gene: CASK was added gene: CASK was added to Malformations of cortical development. Sources: NHS GMS Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CASK were set to PMID: 21954287, 20595373 Phenotypes for gene: CASK were set to Gyral simplification Review for gene: CASK was set to GREEN gene: CASK was marked as current diagnostic Added comment: Multiple publications reporting a subset of patients with simplified gyral pattern, in addition to the more recognisable features of cerebellar hypoplasia and microcephaly. Sources: NHS GMS |
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