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  3. SLC25A24
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Fetal anomalies

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

2 reviews

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

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, 4:52 a.m. | Last Modified: 6 Jan 2022, 4:52 a.m.
Panel Version: 0.1871

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
FONTAINE PROGEROID SYNDROME, MIM#612289

Publications

Created: 6 Jan 2022, 4:52 a.m.
Last Modified: 6 Jan 2022, 4:52 a.m.
Panel version: 0.1871

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

Created: 18 Feb 2020, 7:56 a.m.
Last Modified: 18 Feb 2020, 7:56 a.m.
Panel version: 0.1903

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Fontaine progeroid syndrome, MIM#612289
OMIM
608744
Clinvar variants
Variants in SLC25A24
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC25A24 were set to

6 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC25A24 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

6 Jan 2022, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: SLC25A24 were changed from Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction to Fontaine progeroid syndrome, MIM#612289

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC25A24 was added gene: SLC25A24 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC25A24 were set to Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction