Hyperammonaemia

Gene: CD320

Red List (low evidence)

CD320 (CD320 molecule)
EnsemblGeneIds (GRCh38): ENSG00000167775
EnsemblGeneIds (GRCh37): ENSG00000167775
OMIM: 606475, Gene2Phenotype
CD320 is in 3 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Phenotype associated with this gene is not relevant for this panel
Created: 14 Feb 2017, 1:34 p.m.

Ellen McDonagh (Genomics England Curator)

Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.
Created: 5 Nov 2015, 5:19 p.m.

Peter Clayton (UCL Institute of Child Health)

Red List (low evidence)

Other causes of methylmalonic acidaemia cause hyperammonaemia
Created: 5 Nov 2015, 4:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methylmalonic aciduria due to transcobalamin receptor defect

Details

Sources
  • Emory Genetics Laboratory
OMIM
606475
Clinvar variants
Variants in CD320
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Nov 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 on 22nd November 2016

5 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

CD320 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory