Pneumothorax - familial
Gene: SLC25A24

SLC25A24 (solute carrier family 25 member 24)
EnsemblGeneIds (GRCh38): ENSG00000085491
EnsemblGeneIds (GRCh37): ENSG00000085491
OMIM: 608744, Gene2Phenotype
SLC25A24 is in 8 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: SLC25A24; Suggested initial gene rating: Amber; Evidence for inclusion: Fontaine progeroid syndrome; includes lung disease/pneumothorax as features; Evidence for exclusion: Highly syndromic, early onset condition - inappropriate for idiopathic pneumothorax cases.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 6 Dec 2018, 2:37 p.m.

Created: 6 Dec 2018, 2:37 p.m.

Panel version: 1.9

Details

Sources

NHS GMS

Phenotypes

Fontaine progeroid syndrome, OMIM
612289
Fontaine progeroid syndrome, MONDO:0012853

OMIM

608744

Clinvar variants

Variants in SLC25A24

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Aug 2023, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC25A24 were set to

1 Aug 2023, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC25A24 were changed from to Fontaine progeroid syndrome, OMIM; 612289; Fontaine progeroid syndrome, MONDO:0012853

6 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SLC25A24 was added gene: SLC25A24 was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: SLC25A24 was set to

Pneumothorax - familial Gene: SLC25A24