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  3. NCAPG2
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Fetal anomalies

Gene: NCAPG2

Amber List (moderate evidence)
NCAPG2 (non-SMC condensin II complex subunit G2)
EnsemblGeneIds (GRCh38): ENSG00000146918
EnsemblGeneIds (GRCh37): ENSG00000146918
OMIM: 608532, Gene2Phenotype
NCAPG2 is in 4 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Beth Young (West Midlands Regional Genetics Laboratory)

I don't know

Amber on Limb disorders panel. Khan et al. 2019 - 2 unrelated cases with homozygous or compound heterozygous variants in NCAPG2. Proband 1 presented prenatally with multiple fetal anomalies reported by ultrasound at 41 weeks; frontal bossing, two-vessel cord, renal abnormalities and dilated cerebral ventricles. Functional studies on skin fibroblasts showed abnormal chromosome condensation. Zebrafish model showed clinically relevant phenotype of renal anomalies and microcephaly.Proband 2 had multiple congenital anomalies at birth; microcephaly, facial dysmorhisome, digit anomalies, ocular phenotypes, contractures, noneatal hypertonia and sacral dimple - not all of these would be detected prenatally. Hydronephrosis developed at 6 weeks. Normal brain MRI at 1 month.Not sufficient overlap between phenotype of 2 cases to confidently diagnose prenatally?
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Khan-Khan-Katsanis syndrome, MONDO:0032764; Khan-Khan-Katsanis syndrome, OMIM:618460

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Khan-Khan-Katsanis syndrome, MONDO:0032764
  • Khan-Khan-Katsanis syndrome, OMIM:618460
OMIM
608532
Clinvar variants
Variants in NCAPG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: NCAPG2 was added gene: NCAPG2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NCAPG2 were set to 30609410 Phenotypes for gene: NCAPG2 were set to Khan-Khan-Katsanis syndrome, MONDO:0032764; Khan-Khan-Katsanis syndrome, OMIM:618460