1. Panels
  2. Microcephaly
  3. NCAPD3
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Microcephaly

Gene: NCAPD3

Amber List (moderate evidence)
NCAPD3 (non-SMC condensin II complex subunit D3)
EnsemblGeneIds (GRCh38): ENSG00000151503
EnsemblGeneIds (GRCh37): ENSG00000151503
OMIM: 609276, Gene2Phenotype
NCAPD3 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families reported.
Created: 31 Aug 2020, 6:48 a.m. | Last Modified: 31 Aug 2020, 6:48 a.m.
Panel Version: 0.199

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 22, primary, autosomal recessive, MIM# 617984

Publications

Created: 31 Aug 2020, 6:48 a.m.
Last Modified: 31 Aug 2020, 6:48 a.m.
Panel version: 0.199

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 22, primary, autosomal recessive, MIM# 617984
OMIM
609276
Clinvar variants
Variants in NCAPD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ncapd3 has been classified as Amber List (Moderate Evidence).

31 Aug 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NCAPD3 were changed from to Microcephaly 22, primary, autosomal recessive, MIM# 617984

31 Aug 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NCAPD3 were set to 27737959

31 Aug 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NCAPD3 were set to

31 Aug 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NCAPD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

31 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ncapd3 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NCAPD3 was added gene: NCAPD3 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NCAPD3 was set to Unknown