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| Intellectual disability - microarray and sequencing v3.1562 | CEP85L | Eleanor Williams Tag gene-checked tag was added to gene: CEP85L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1519 | CEP85L | Ivone Leong Tag Q3_21_rating was removed from gene: CEP85L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1519 | CEP85L | Sarah Leigh commented on gene: CEP85L: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1519 | CEP85L |
Ivone Leong Source Expert Review Green was added to CEP85L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability - microarray and sequencing v3.1200 | CEP85L | Sarah Leigh Tag Q3_21_rating tag was added to gene: CEP85L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1200 | CEP85L |
Sarah Leigh edited their review of gene: CEP85L: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least nine variants reported in nine unrelated families. PMID 32097630 comments that - the CEP85L gene as a whole is tolerant to loss of function and to missense variation. However, the 4 missense variants that have been identified in patients affect a 15-aa region of the protein that is highly intolerant to missense variation, the splicing and start-loss variants are predicted to produce a shortened protein that excludes the same 15-aa region. It is speculated that variants in this constrained region, may act through a dominant-negative mechanism. Intellectual disability was apparent in eight of the families studied, ranging from mild (three families) to moderate (five families). Supportive studies were also presented (PMID 32097630, 32097629).; Changed rating: GREEN |
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| Intellectual disability - microarray and sequencing v3.1200 | CEP85L | Sarah Leigh Classified gene: CEP85L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1200 | CEP85L | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1200 | CEP85L | Sarah Leigh Gene: cep85l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1199 | CEP85L | Sarah Leigh Phenotypes for gene: CEP85L were changed from Intellectual disability; epilepsy, lissencephaly to Lissencephaly 10, OMIM:618873; Lissencephaly 10, MONDO:0030031 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1195 | CEP85L |
Rachel Challis gene: CEP85L was added gene: CEP85L was added to Intellectual disability. Sources: NHS GMS Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CEP85L were set to 32097629; 32097630 Phenotypes for gene: CEP85L were set to Intellectual disability; epilepsy, lissencephaly Penetrance for gene: CEP85L were set to unknown Review for gene: CEP85L was set to GREEN gene: CEP85L was marked as current diagnostic Added comment: Recommend adding as Green gene to GMS - R29 Intellectual disability panel. Monoallelic missense and loss of function variants in CEP85L are associated with Lissencephaly (OMIM 618873). Over 10 unrelated families have been described with de novo and inherited rare variants in CEP85L. Functional work in cell lines and knockdown of Cep85l in mice confirms the role of CEP85L in neuronal migration. PMID: 32097629 PMID: 32097630 Sources: NHS GMS |
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