SLC19A2

solute carrier family 19 member 2
OMIM: 603941, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
No list SLC19A2 in Multi-organ autoimmune diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.12	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed UKGTN Phenotypes Neonatal Diabetes Tags curated_removed
Green SLC19A2 in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.68	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Thiamine-responsive megaloblastic anemia syndrome MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME
Green SLC19A2 in Neonatal diabetes Level 2: Endocrinology Version 5.17 Latest signed off version: v5.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing UKGTN Phenotypes Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270
Green SLC19A2 in Pyruvate dehydrogenase (PDH) deficiency Level 2: Mitochondrial Version 1.38 Latest signed off version: v1.2 (17 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME OMIM:249270 thiamine-responsive megaloblastic anemia syndrome MONDO:0009575
Green SLC19A2 in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.68	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Thiamine-responsive megaloblastic anemia syndrome MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME
Green SLC19A2 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Thiamine-Responsive Megaloblastic Anemia syndrome 249270 Tags treatable
Red SLC19A2 in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.124	review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert Review Red UKGTN Phenotypes Thiamine-Responsive Megaloblastic Anemia Thiamine-responsive megaloblastic anemia syndrome, 249270 (originally on the Imerslund-Grasbeck syndrome gene panel)
No list SLC19A2 in Monogenic diabetes Level 2: Endocrinology Version 3.10 Latest signed off version: v3.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Thiamine-responsive megaloblastic anemia syndrome MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME Tags curated_removed
Green SLC19A2 in Rare anaemia Level 2: Haematology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes 249270 Thiamine-responsive megaloblastic anemia syndrome 249270 Thiamine-Responsive Megaloblastic Anemia syndrome Thiamine-Responsive Megaloblastic Anemia syndrome, 249270
Green SLC19A2 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Thiamine-responsive megaloblastic anemia syndrome (Disorders of thiamine metabolism) Thiamine-responsive megaloblastic anemia syndrome, 249270
Green SLC19A2 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270 Thiamine-responsive megaloblastic anemia syndrome (Disorders of thiamine metabolism)
Green SLC19A2 in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 4.20 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270
Red SLC19A2 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert
Green SLC19A2 in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270
Red SLC19A2 in Proteinuric renal disease Level 2: Renal Version 5.7 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Thiamine-Responsive Megaloblastic Anemia Thiamine-responsive megaloblastic anemia syndrome, 249270 (originally on the Imerslund-Grasbeck syndrome gene panel)
Red SLC19A2 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH