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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE 205950
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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
R-numbers: R96
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
205950 Anemia, sideroblastic, 2, pyridoxine-refractory, Sideroblastic anaemia - increased serum ferritin
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
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 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anemia, sideroblastic, 2, pyridoxine-refractory, 205950
Green
in Rare anaemia
R-numbers: R92
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
205950 Pyridoxine refractory sideroblastic anaemia 2, 205950 Anemia, sideroblastic, 2, pyridoxine-refractory, Anemia, sideroblastic, 2, pyridoxine-refractory, 205950