SLC25A38

solute carrier family 25 member 38
OMIM: 610819
PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE 205950
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
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
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 6.0
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
nonsyndromic autosomal recessive congenital sideroblastic anemia, congenital sideroblastic anemias, severe, non-syndromic, microcytic/hypochromic sideroblastic anemia
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