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Intellectual disability


Red List (low evidence)

NCAPH (non-SMC condensin I complex subunit H)
EnsemblGeneIds (GRCh38): ENSG00000121152
EnsemblGeneIds (GRCh37): ENSG00000121152
OMIM: 602332, Gene2Phenotype
NCAPH is in 3 panels

1 review

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Additional cases are required to substantiate causation but added to watchlist.
Created: 31 Jul 2020, 4:02 p.m. | Last Modified: 31 Jul 2020, 4:02 p.m.
Panel Version: 3.219
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
Created: 31 Jul 2020, 4:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Microcephaly 23, primary, autosomal recessive, 617985



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • Literature
  • Microcephaly 23, primary, autosomal recessive, 617985
Clinvar variants
Variants in NCAPH
Panels with this gene

History Filter Activity

31 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ncaph has been classified as Red List (Low Evidence).

31 Jul 2020, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: NCAPH was added gene: NCAPH was added to Intellectual disability. Sources: Literature watchlist tags were added to gene: NCAPH. 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