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

Microcephaly

Gene: NCAPH

Red List (low evidence)
NCAPH (non-SMC condensin I complex subunit H)
EnsemblGeneIds (GRCh38): ENSG00000121152
EnsemblGeneIds (GRCh37): ENSG00000121152
OMIM: 602332, Gene2Phenotype
NCAPH is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported.
Created: 31 Aug 2020, 8:40 a.m. | Last Modified: 31 Aug 2020, 8:40 a.m.
Panel Version: 0.213

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 23, primary, autosomal recessive 617985

Publications

Created: 31 Aug 2020, 8:40 a.m.
Last Modified: 31 Aug 2020, 8:40 a.m.
Panel version: 0.213

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 23, primary, autosomal recessive 617985
OMIM
602332
Clinvar variants
Variants in NCAPH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ncaph has been classified as Red List (Low Evidence).

31 Aug 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NCAPH were changed from to Microcephaly 23, primary, autosomal recessive 617985

31 Aug 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NCAPH were set to

31 Aug 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ncaph has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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