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 Bone Marrow Failure Level 2: Haematological disorders Version 1.114 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
Green SLC25A38 in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
Green SLC25A38 in Mitochondrial disease Level 2: Metabolic disorders Version 0.970 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
Green SLC25A38 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 (3)
Green SLC25A38 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
Green SLC25A38 in Red cell disorders Level 2: Haematological disorders Version 1.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH North West GLH London South GLH Victorian Clinical Genetics Services Phenotypes Anaemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
Green SLC25A38 in Metal Metabolism Disorders Level 2: Metabolic disorders Version 0.47 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 205950 Anemia, sideroblastic, 2, pyridoxine-refractory Sideroblastic anaemia - increased serum ferritin
Amber SLC25A38 in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Anaemia, sideroblastic, 2, pyridoxine-refractory, MIM#205950
Green SLC25A38 in IBMDx study Version 0.35	review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Victorian Clinical Genetics Services Phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
Green SLC25A38 in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Anaemia, sideroblastic, 1, MIM #300751
Green SLC25A38 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950 Tags treatable haematological