| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe microcephaly v3.5 | CCND2 | Arina Puzriakova Tag Q1_22_rating was removed from gene: CCND2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v3.5 | CCND2 | Arina Puzriakova edited their review of gene: CCND2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v3.5 | CCND2 | Arina Puzriakova changed review comment from: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v3.5 | CCND2 | Arina Puzriakova commented on gene: CCND2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v3.4 | CCND2 |
Arina Puzriakova Source Expert Review Green was added to CCND2. Source NHS GMS was added to CCND2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v2.280 | CCND2 | Sarah Leigh Publications for gene: CCND2 were set to 34087052 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.279 | CCND2 |
Sarah Leigh edited their review of gene: CCND2: Added comment: Not associated with a phenotype in OMIM, Gen2Phen. At least three terminating variants have been reported in three unrelated cases with severe microcephaly. These variants are located within the proximal region of the gene, in contrast to the previously reported megalencephaly-associated CCND2 variants, which are localized to the terminal exon, resulting in gain of function (PMID:34087052;24705253).; Changed rating: GREEN |
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| Severe microcephaly v2.279 | CCND2 | Sarah Leigh Phenotypes for gene: CCND2 were changed from Microcephaly, MONDO# 0001149 to Microcephaly, MONDO:0001149 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.278 | CCND2 | Sarah Leigh Classified gene: CCND2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.278 | CCND2 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.278 | CCND2 | Sarah Leigh Gene: ccnd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.277 | CCND2 | Sarah Leigh Tag Q1_22_rating tag was added to gene: CCND2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.277 | CCND2 |
Zornitza Stark gene: CCND2 was added gene: CCND2 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCND2 were set to 34087052 Phenotypes for gene: CCND2 were set to Microcephaly, MONDO# 0001149 Review for gene: CCND2 was set to GREEN Added comment: Novel phenotype of microcephaly and mild developmental delay described in three unrelated families. Variants associated with this phenotype located in the proximal region of the gene. Variants in distal region of gene associated with a reciprocal phenotype of macrocephaly/megalencephaly with severe cortical malformation. Sources: Literature |
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