Genomics England

solute carrier family 19 member 2

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270
Green in Neonatal diabetes R-numbers: R143 Signed-off version 6.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270, diabetes mellitus, MONDO:0005015
Green in Possible mitochondrial disorder, nuclear genes R-numbers: R63 Signed-off version 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270
Green in Pyruvate dehydrogenase (PDH) deficiency R-numbers: R316 Signed-off version 1.41	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270
Green in Rare anaemia R-numbers: R92 Signed-off version 4.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270