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Intellectual disability

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 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: Additional cases required to ascertain the contribution of NCAPG2 variants to an ID phenotype.
Created: 31 Jul 2020, 3:47 p.m. | Last Modified: 31 Jul 2020, 3:47 p.m.
Panel Version: 3.217
Associated with Khan-Khan-Katsanis syndrome in OMIM and probable gene for Severe Neurodevelopmental Syndrome in G2P.

PMID: 30609410 (2019) - Two unrelated cases with overlapping clinical phenotypes that include severe neurodevelopmental defects, microcephaly, failure to thrive, ocular abnormalities, and defects in urogenital and limb morphogenesis.

Developmental delay, moderate ID, and lack of speech, was noted in one patient (11-year-old female) carrying two compound heterozygous NCAPG2 variants ([c.1825A>G, p.Lys609Glu];[c.2078C>T, p.Thr693Met]). Functional studies using patient fibroblasts showed abnormal chromosome condensation, augmented anaphase chromatin-bridge formation, and micronuclei in daughter cells.

The second patient, harbouring a homozygous missense variant (c.2548A>C, p.Thr850Pro), shared several phenotypic characteristics with the other patient; however, as she died at 4 months of age, a formal neurocognitive assessment was not possible.

Knockdown zebrafish model recapulates clinically relevant phenotypes, however is not effective for evaluation of ID.
Created: 31 Jul 2020, 3:46 p.m. | Last Modified: 31 Jul 2020, 3:46 p.m.
Panel Version: 3.216

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Khan-Khan-Katsanis syndrome, 618460

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Two unrelated families and an animal model (zebrafish).
Sources: Expert list
Created: 4 Mar 2020, 5 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Khan-Khan-Katsanis syndrome, MIM# 618460

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

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

History Filter Activity

31 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ncapg2 has been classified as Amber List (Moderate Evidence).

4 Mar 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: NCAPG2 was added gene: NCAPG2 was added to Intellectual disability. Sources: Expert list 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, MIM# 618460 Review for gene: NCAPG2 was set to GREEN gene: NCAPG2 was marked as current diagnostic