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Intellectual disability

Gene: NCAPD2

No list

NCAPD2 (non-SMC condensin I complex subunit D2)
EnsemblGeneIds (GRCh38): ENSG00000010292
EnsemblGeneIds (GRCh37): ENSG00000010292
OMIM: 615638, Gene2Phenotype
NCAPD2 is in 2 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

5 individuals from three unrelated families reported, some functional evidence.
Sources: Expert list
Created: 4 Mar 2020, 4:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Microcephaly 21, primary, autosomal recessive, OMIM #617983
OMIM
615638
Clinvar variants
Variants in NCAPD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Mar 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: NCAPD2 was added gene: NCAPD2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: NCAPD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NCAPD2 were set to 31056748; 27737959; 28097321 Phenotypes for gene: NCAPD2 were set to Microcephaly 21, primary, autosomal recessive, OMIM #617983 Review for gene: NCAPD2 was set to GREEN gene: NCAPD2 was marked as current diagnostic