SLC25A38

solute carrier family 25 member 38
OMIM: 610819, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green SLC25A38 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing UKGTN Radboud University Medical Center, Nijmegen Phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory 205950
Green SLC25A38 in Rare anaemia Level 2: Haematology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes 205950 Pyridoxine refractory sideroblastic anaemia 2 205950 Anemia, sideroblastic, 2, pyridoxine-refractory Anemia, sideroblastic, 2, pyridoxine-refractory, 205950
Green SLC25A38 in Iron metabolism disorders - NOT common HFE mutations Level 2: Haematology Version 3.4 Latest signed off version: v3.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Wessex and West Midlands GLH Phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory OMIM:205950 sideroblastic anemia 2 MONDO:0008785
Green SLC25A38 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.643	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) nonsyndromic autosomal recessive congenital sideroblastic anemia congenital sideroblastic anemias severe, non-syndromic, microcytic/hypochromic sideroblastic anemia
Green SLC25A38 in Likely inborn error of metabolism Level 2: Metabolic Version 8.103 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green 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 SLC25A38 in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 4.23 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, 205950
Green SLC25A38 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.181 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
Green SLC25A38 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE 205950
Amber SLC25A38 in Intellectual disability Level 2: Developmental disorders Version 9.345 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
Green SLC25A38 in Mitochondrial disorders Level 2: Mitochondrial Version 9.46 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes nonsyndromic autosomal recessive congenital sideroblastic anemia congenital sideroblastic anemias severe, non-syndromic, microcytic/hypochromic sideroblastic anemia
Red SLC25A38 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.18 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH