SLC19A2

solute carrier family 19 member 2
OMIM: 603941, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green SLC19A2 in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
Green SLC19A2 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
Green SLC19A2 in Mitochondrial disease Level 2: Metabolic disorders Version 0.927 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services
Green SLC19A2 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
Red SLC19A2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Thiamine-responsive megaloblastic anemia syndrome, MIM#249270
Red SLC19A2 in Maturity-onset Diabetes of the Young Level 2: Endocrine disorders Version 1.21	review	Unknown	Sources Expert Review Red Other Phenotypes maturity-onset diabetes of the young MONDO:0018911
Green SLC19A2 in Monogenic Diabetes Level 2: Endocrine disorders Version 0.134 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes thiamine-responsive megaloblastic anemia syndrome MONDO:0009575
Green SLC19A2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)
Green SLC19A2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Thiamine-responsive megaloblastic anemia syndrome
Green SLC19A2 in Red cell disorders Level 2: Haematological disorders Version 1.24	review	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
Green SLC19A2 in IBMDx study Version 0.25	review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Victorian Clinical Genetics Services Phenotypes Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
Green SLC19A2 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)
Green SLC19A2 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270 Tags treatable metabolic
Green SLC19A2 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)