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Newborns main panel

Gene: SLC19A1

Green List (high evidence)
SLC19A1 (solute carrier family 19 member 1)
EnsemblGeneIds (GRCh38): ENSG00000173638
EnsemblGeneIds (GRCh37): ENSG00000173638
OMIM: 600424, Gene2Phenotype
SLC19A1 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
PMID: 32276275 - 1 case PMID: 36517554 - 1 family PMID: 36745868 - 2 cases
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
  • Folate dependent megaloblastic anaemia
OMIM
600424
Clinvar variants
Variants in SLC19A1
Penetrance
None
Panels with this gene

History Filter Activity

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SLC19A1 were changed from Megaloblastic anemia, folate-responsive to Folate dependent megaloblastic anaemia

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Megaloblastic anemia, folate-responsive for gene: SLC19A1

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 SLC19A1. Added phenotypes Megaloblastic anemia, folate-responsive for gene: SLC19A1 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 SLC19A1. Added phenotypes Megaloblastic anemia, folate-responsive for gene: SLC19A1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

9 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: SLC19A1 were changed from ?Megaloblastic anemia, folate-responsive; Megaloblastic anemia, folate-responsive to Megaloblastic anemia, folate-responsive

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SLC19A1. Added phenotypes Megaloblastic anemia, folate-responsive for gene: SLC19A1 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to SLC19A1. Rating Changed from Red List (low evidence) to No List (delete)

9 Mar 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes ?Megaloblastic anemia, folate-responsive for gene: SLC19A1

9 Mar 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: SLC19A1 was added gene: SLC19A1 was added to Newborns main panel. Sources: Expert Review Red Mode of inheritance for gene: SLC19A1 was set to BIALLELIC, autosomal or pseudoautosomal