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DDG2P

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 8 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Gorlin-Chaudhry-Moss syndrome (GCMS)
  • Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
OMIM
608744
Clinvar variants
Variants in SLC25A24
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SLC25A24 was added gene: SLC25A24 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype 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 Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction Mode of pathogenicity for gene: SLC25A24 was set to Other - please provide details in the comments