Microcephaly
Gene: NCAPD2

NCAPD2 (non-SMC condensin I complex subunit D2)
EnsemblGeneIds (GRCh38): ENSG00000010292
EnsemblGeneIds (GRCh37): ENSG00000010292
OMIM: 615638, Gene2Phenotype
NCAPD2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families reported: 1 family with 2 sibs with microcephaly and ID, and homozygous NCAPD2 mutation, which segregated with disease. No functional evidence. 1 family with 1 affected and homozygous NCAPD2 mutation, which segregated with disease. Patient fibroblasts showed impaired chromosome segregation and abnormal recovery from mitotic condensation compared to controls. 1 family with 2 sibs with microcephaly, growth retardation, and ID, and homozygous NCAPD2 mutation, which segregated with disease. Functional studies of the variants and studies of patient cells were not performed.
Created: 12 Dec 2019, 9:29 a.m. | Last Modified: 12 Dec 2019, 9:29 a.m.

Panel Version: 0.36

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 21, primary, autosomal recessive; OMIM #617983

Publications

Created: 12 Dec 2019, 9:29 a.m.
Last Modified: 12 Dec 2019, 9:29 a.m.
Panel version: 0.36

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Microcephaly 21, primary, autosomal recessive
OMIM #617983

OMIM

615638

Clinvar variants

Variants in NCAPD2

Penetrance

None

Publications

Panels with this gene