Genomics England

SLC25A38

solute carrier family 25 member 38

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE 205950
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
Green in Iron metabolism disorders - NOT common HFE mutations R-numbers: R96 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory OMIM:205950, sideroblastic anemia 2 MONDO:0008785
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes severe, non-syndromic, microcytic/hypochromic sideroblastic anemia, Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), nonsyndromic autosomal recessive congenital sideroblastic anemia, congenital sideroblastic anemias
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes nonsyndromic autosomal recessive congenital sideroblastic anemia, congenital sideroblastic anemias, severe, non-syndromic, microcytic/hypochromic sideroblastic anemia
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, 205950
Green in Rare anaemia R-numbers: R92 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 205950 Pyridoxine refractory sideroblastic anaemia 2, 205950 Anemia, sideroblastic, 2, pyridoxine-refractory, Anemia, sideroblastic, 2, pyridoxine-refractory, 205950