Inherited phaeochromocytoma and paraganglioma excluding NF1

Gene: SLC25A11

Amber List (moderate evidence)

SLC25A11 (solute carrier family 25 member 11)
EnsemblGeneIds (GRCh38): ENSG00000108528
EnsemblGeneIds (GRCh37): ENSG00000108528
OMIM: 604165, Gene2Phenotype
SLC25A11 is in 1 panel

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is associated with a relevant phenotype in OMIM but not on Gene2Phenotype. There are >3 unrelated cases and therefore, there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.

This gene was suggested to be added and given a Green rating by Ruth Casey (Cambridge University Hospital).
Sources: Expert Review
Created: 28 Jan 2021, 2:21 p.m.

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

Phenotypes
Paragangliomas 6, OMIM:618464

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Paragangliomas 6, OMIM:618464
Tags
for-review
OMIM
604165
Clinvar variants
Variants in SLC25A11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: slc25a11 has been classified as Amber List (Moderate Evidence).

28 Jan 2021, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: SLC25A11 was added gene: SLC25A11 was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review for-review tags were added to gene: SLC25A11. Mode of inheritance for gene: SLC25A11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC25A11 were set to 29431636 Phenotypes for gene: SLC25A11 were set to Paragangliomas 6, OMIM:618464 Review for gene: SLC25A11 was set to GREEN