1. Genes and Genomic Entities
  2. SLC25A24

SLC25A24

solute carrier family 25 member 24
OMIM: 608744, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Red SLC25A24 in Pneumothorax - familial

Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review Not set
Sources
  • NHS GMS
Phenotypes
  • Fontaine progeroid syndrome, OMIM
  • 612289
  • Fontaine progeroid syndrome, MONDO:0012853
Green SLC25A24 in Fetal anomalies


Version 3.169
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Fontaine progeroid syndrome, OMIM
  • 612289
  • Fontaine progeroid syndrome, MONDO:0012853
Green SLC25A24 in Rare syndromic craniosynostosis or isolated multisuture synostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.180
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Fontaine progeroid syndrome, OMIM
  • 612289
  • Fontaine progeroid syndrome, MONDO:0012853
Green SLC25A24 in DDG2P


Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Gorlin-Chaudhry-Moss syndrome (GCMS)
    • Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
    Red SLC25A24 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.553
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review Not set
    Sources
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fontaine progeroid syndrome, OMIM
    • 612289
    • Fontaine progeroid syndrome, MONDO:0012853
    Amber SLC25A24 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.169
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Fontaine progeroid syndrome, OMIM
    • 612289
    • Fontaine progeroid syndrome, MONDO:0012853
    Tags
    • Q3_23_promote_green
    Amber SLC25A24 in Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • London North GLH
    Phenotypes
    • Fontaine progeroid syndrome, OMIM
    • 612289
    • Fontaine progeroid syndrome, MONDO:0012853
    Tags
    • Q4_23_promote_green
    • Q4_23_NHS_review
    Green SLC25A24 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fontaine progeroid syndrome, OMIM
    • 612289
    • Fontaine progeroid syndrome, MONDO:0012853