PanelApp
  1. Genes and Genomic Entities
  2. SLC25A38

SLC25A38

solute carrier family 25 member 38
OMIM: 610819, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green SLC25A38 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.129

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 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 1.3512

    		1 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 0.1085

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 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 0.110

    		0 reviews 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

    		0 reviews 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 1.33

    		1 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 0.51

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  0 reviews 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 1.465

    		2 reviews 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 0.38

    		1 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 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Anaemia, sideroblastic, 1, MIM #300751

    Green SLC25A38 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
    Tags
    • treatable
    • haematological