1. Panels
  2. Newborns main panel
  3. SLC30A2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: SLC30A2

Red List (low evidence)
SLC30A2 (solute carrier family 30 member 2)
EnsemblGeneIds (GRCh38): ENSG00000158014
EnsemblGeneIds (GRCh37): ENSG00000158014
OMIM: 609617, Gene2Phenotype
SLC30A2 is in 1 panel

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 36967740 - 3 cases dominant PMID: 32278324 - 1 case recessive PMID: 28111782 - 1 case dominant PMID: 27304099 - 3 cases dominant
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Transient neonatal zinc deficiency
OMIM
609617
Clinvar variants
Variants in SLC30A2
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Transient neonatal zinc deficiency for gene: SLC30A2

5 Jul 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Transient neonatal zinc deficiency for gene: SLC30A2

31 May 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Transient neonatal zinc deficiency for gene: SLC30A2

5 May 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Transient neonatal zinc deficiency for gene: SLC30A2

27 Mar 2023, Gel status: 1

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

Mafalda Gomes (Genomics England Curator)

gene: SLC30A2 was added gene: SLC30A2 was added to Newborns main panel. Sources: Expert Review Red Mode of inheritance for gene: SLC30A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC30A2 were set to Transient neonatal zinc deficiency