| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Malformations of cortical development v2.141 | CEP85L | Eleanor Williams Tag gene-checked tag was added to gene: CEP85L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.133 | CEP85L | Eleanor Williams Tag for-review was removed from gene: CEP85L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.131 | CEP85L | Sarah Leigh commented on gene: CEP85L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.130 | CEP85L |
Eleanor Williams Source Expert Review Green was added to CEP85L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Malformations of cortical development v2.45 | CEP85L | Rachel Challis reviewed gene: CEP85L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 32097629, 32097630; Phenotypes: Intellectual disability, epilepsy, lissencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.20 | CEP85L | Arina Puzriakova Phenotypes for gene: CEP85L were changed from Lissencephaly, posterior predominant to Lissencephaly 10, OMIM:618873; Lissencephaly 10, MONDO:0030031 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.19 | CEP85L | Arina Puzriakova Publications for gene: CEP85L were set to 32097630 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.18 | CEP85L | Arina Puzriakova Tag for-review tag was added to gene: CEP85L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.18 | CEP85L | Arina Puzriakova Classified gene: CEP85L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.18 | CEP85L |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag). At least 13 patients from 9 unrelated families with lissencephaly and heterozygous variants in the CEP85L gene. Mouse model supports a role in neuronal migration. Gene-disease association also included in OMIM. |
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| Malformations of cortical development v2.18 | CEP85L | Arina Puzriakova Gene: cep85l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.4 | CEP85L |
Zornitza Stark gene: CEP85L was added gene: CEP85L was added to Malformations of cortical development. Sources: Literature Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CEP85L were set to 32097630 Phenotypes for gene: CEP85L were set to Lissencephaly, posterior predominant Review for gene: CEP85L was set to GREEN Added comment: Thirteen individuals reported with mono allelic variants in this gene, inherited in two of the families. Mouse model had neuronal migration defects. Sources: Literature |
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