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Mendeliome

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 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families and functional evidence (zebrafish model). Rated as LIMITED by ClinGen; one of the families had a homozygous missense variant. Internal case identified by VCGS but dual diagnosis.
Sources: Literature
Created: 16 Jan 2020, 11:34 p.m. | Last Modified: 5 Apr 2023, 8:37 p.m.
Panel Version: 1.757

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Khan-Khan-Katsanis syndrome, MIM# 618460

Publications

Details

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

History Filter Activity

5 Apr 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ncapg2 has been classified as Green List (High Evidence).

16 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ncapg2 has been classified as Green List (High Evidence).

16 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NCAPG2 was added gene: NCAPG2 was added to Mendeliome. Sources: Literature 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