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Newborns main panel

Gene: SLC39A7

Green List (high evidence)
SLC39A7 (solute carrier family 39 member 7)
EnsemblGeneIds (GRCh38): ENSG00000112473
EnsemblGeneIds (GRCh37): ENSG00000112473
OMIM: 601416, Gene2Phenotype
SLC39A7 is in 3 panels

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
Seven missense variants have been reported in five probands, and one additional family member, in one publication (PMID: 30718914). One case - PMID: 35754127 (moderate on clingen)
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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • SLC39A7 associated Agammaglobulinaemia
OMIM
601416
Clinvar variants
Variants in SLC39A7
Penetrance
None
Panels with this gene

History Filter Activity

12 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC39A7 were changed from SLC39A7 associated agammaglobulinaemia to SLC39A7 associated Agammaglobulinaemia

6 Feb 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SLC39A7 were changed from SLC39A7 associated agammaglobulinemia to SLC39A7 associated agammaglobulinaemia

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes SLC39A7 associated agammaglobulinemia for gene: SLC39A7

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SLC39A7. Added phenotypes SLC39A7 associated agammaglobulinemia for gene: SLC39A7 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SLC39A7. Added phenotypes SLC39A7 associated agammaglobulinemia for gene: SLC39A7 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SLC39A7. Added phenotypes SLC39A7 associated agammaglobulinemia for gene: SLC39A7 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: SLC39A7 was added gene: SLC39A7 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal