Severe microcephalyGene: NCAPH
Comment on list classification: Additional cases are required to substantiate causation but added to watchlist.
Created: 31 Jul 2020, 3:58 p.m. | Last Modified: 31 Jul 2020, 3:58 p.m.
Panel Version: 2.17
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.
Created: 31 Jul 2020, 3:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Microcephaly 23, primary, autosomal recessive, 617985
Tag watchlist tag was added to gene: NCAPH.
Gene: ncaph has been classified as Red List (Low Evidence).
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