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  3. SLC19A1
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Rare anaemia

Gene: SLC19A1

Red List (low evidence)
SLC19A1 (solute carrier family 19 member 1)
EnsemblGeneIds (GRCh38): ENSG00000173638
EnsemblGeneIds (GRCh37): ENSG00000173638
OMIM: 600424, Gene2Phenotype
SLC19A1 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. Rating Red as only a single case reported at this time. Additional cases required to validate pathogenicity of variants in this gene.
Created: 4 Jun 2021, 3:35 p.m. | Last Modified: 4 Jun 2021, 3:35 p.m.
Panel Version: 1.22
Created: 4 Jun 2021, 3:35 p.m.
Last Modified: 4 Jun 2021, 3:35 p.m.
Panel version: 1.22

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single individual reported with in-frame deletion, some functional data.
Sources: Literature
Created: 10 May 2021, 8:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Megaloblastic anemia, folate-responsive, MIM# 601775

Publications

Created: 10 May 2021, 8:24 a.m.

Panel version: 1.21

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Megaloblastic anemia, folate-responsive, OMIM:601775
OMIM
600424
Clinvar variants
Variants in SLC19A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jun 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SLC19A1 were changed from Megaloblastic anemia, folate-responsive, MIM# 601775 to Megaloblastic anemia, folate-responsive, OMIM:601775

4 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: slc19a1 has been classified as Red List (Low Evidence).

10 May 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SLC19A1 was added gene: SLC19A1 was added to Rare anaemia. Sources: Literature Mode of inheritance for gene: SLC19A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC19A1 were set to 32276275 Phenotypes for gene: SLC19A1 were set to Megaloblastic anemia, folate-responsive, MIM# 601775 Review for gene: SLC19A1 was set to RED