| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe microcephaly v2.17 | NCAPH | Arina Puzriakova Tag watchlist tag was added to gene: NCAPH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.17 | NCAPH | Arina Puzriakova Classified gene: NCAPH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.17 | NCAPH | Arina Puzriakova Added comment: Comment on list classification: Additional cases are required to substantiate causation but added to watchlist. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.17 | NCAPH | Arina Puzriakova Gene: ncaph has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.16 | NCAPH |
Arina Puzriakova gene: NCAPH was added gene: NCAPH was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: NCAPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NCAPH were set to 27737959 Phenotypes for gene: NCAPH were set to Microcephaly 23, primary, autosomal recessive, 617985 Added comment: Associated with Microcephaly 23 in OMIM and a possible gene for microcephaly in G2P. PMID: 27737959 (2016) - A homozygous missense variant in NCAPH (c.728C>T, p.Pro243Leu) was detected in a 42-year-old male with microcephaly (OFC -4.2 SD) and moderate ID. Functional studies indicated that although the variant did not affect cellular protein levels, it disrupted condensin-dependent mitotic chromosome integrity, providing supporting evidence for pathogenicity. Biallelic variants in other genes encoding subunits of the two condensin complexes result in a similar phenotype. Sources: Literature |
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