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Red cell disorders

Gene: SLC19A2

Green List (high evidence)
SLC19A2 (solute carrier family 19 member 2)
EnsemblGeneIds (GRCh38): ENSG00000117479
EnsemblGeneIds (GRCh37): ENSG00000117479
OMIM: 603941, Gene2Phenotype
SLC19A2 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 5 unrelated families reported. Diabetes mellitus and deafness are part of the phenotype.
Created: 15 Sep 2020, 3:29 a.m. | Last Modified: 15 Sep 2020, 3:29 a.m.
Panel Version: 0.133

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270

Publications

Created: 15 Sep 2020, 3:29 a.m.
Last Modified: 15 Sep 2020, 3:29 a.m.
Panel version: Imported from Bone Marrow Failure panel version 0.133

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Thiamine-responsive megaloblastic anaemia syndrome, MIM# 249270
OMIM
603941
Clinvar variants
Variants in SLC19A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc19a2 has been classified as Green List (High Evidence).

16 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC19A2 were changed from 249270 Thiamine-Responsive Megaloblastic Anemia syndrome; Thiamine-Responsive Megaloblastic Anemia syndrome, 249270; 249270 Thiamine-responsive megaloblastic anemia syndrome to Thiamine-responsive megaloblastic anaemia syndrome, MIM# 249270

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes 249270 Thiamine-Responsive Megaloblastic Anemia syndrome; Thiamine-Responsive Megaloblastic Anemia syndrome, 249270; 249270 Thiamine-responsive megaloblastic anemia syndrome for gene: SLC19A2

15 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC19A2 was added gene: SLC19A2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC19A2 were set to 10391221; 10978358 Phenotypes for gene: SLC19A2 were set to 249270 Thiamine-Responsive Megaloblastic Anemia syndrome; Thiamine-Responsive Megaloblastic Anemia syndrome, 249270; 249270 Thiamine-responsive megaloblastic anemia syndrome