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Mitochondrial disease

Gene: SLC25A24

Green List (high evidence)

SLC25A24 (solute carrier family 25 member 24)
EnsemblGeneIds (GRCh38): ENSG00000085491
EnsemblGeneIds (GRCh37): ENSG00000085491
OMIM: 608744, Gene2Phenotype
SLC25A24 is in 6 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Fontaine progeroid syndrome, MIM# 612289

Seb Lunke (Victorian Clinical Genetics Services)

Eleven individuals described, most ascertained in the fetal or newborn period. All with de-novo mutations in SLC25A24, recurrently either c.650G>A (p.Arg217His) or c.649C>T (p.Arg217Cys).

Main clinical features such as pre- and postnatal growth retardation, skin wrinkling, lipodystrophy, and small distal phalanges of the fingers and toes. The typical triangular facial appearance is characterized by microphthalmia, midface hypoplasia, narrow forehead, depressed nasal bridge, and low hairline. Furthermore, Fontaine progeroid syndrome is associated with coronal craniosynostosis, cardiovascular abnormalities, hypertrichosis, hypoplastic external genitalia, and umbilical hernia.
Created: 6 Jan 2022, 4:49 a.m. | Last Modified: 6 Jan 2022, 4:49 a.m.
Panel Version: 0.10527

Phenotypes
Fontaine progeroid syndrome, MIM#612289

Publications

Variants in this GENE are reported as part of current diagnostic practice

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

De novo heterozygous variants (R217H, R217C) were identified in 9 unrelated cases. Functional analysis demonstrated that the variants affect mitochondrial morphology, and also suggested an impact on oxidative phosphorylation via decreased ATP synthesis and an increase in the mitochondrial membrane potential, thus creating conditions that are inhospitable to cell proliferation.
Sources: NHS GMS
Created: 20 Mar 2020, 6:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Fontaine progeroid syndrome MIM#612289

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Fontaine progeroid syndrome MIM#612289
OMIM
608744
Clinvar variants
Variants in SLC25A24
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc25a24 has been classified as Green List (High Evidence).

20 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc25a24 has been classified as Green List (High Evidence).

20 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SLC25A24 was added gene: SLC25A24 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC25A24 were set to 29100094; 29100093 Phenotypes for gene: SLC25A24 were set to Fontaine progeroid syndrome MIM#612289 Review for gene: SLC25A24 was set to GREEN