Inherited phaeochromocytoma and paraganglioma excluding NF1
Gene: SLC25A11EnsemblGeneIds (GRCh38): ENSG00000108528
EnsemblGeneIds (GRCh37): ENSG00000108528
OMIM: 604165, Gene2Phenotype
SLC25A11 is in 1 panel
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to grey following NHS Genomic Medicine Service approval.Created: 29 May 2024, 12:35 p.m. | Last Modified: 29 May 2024, 12:38 p.m.
Panel Version: 2.8
Terri McVeigh (Royal Marsden NHS Foundation Trust)
Discussed at UKCGG/cancer leads meeting 06/07/2023; agreed insufficient information regarding penetrance/management to justify inclusion on diagnostic panelCreated: 26 Oct 2023, 9:38 a.m. | Last Modified: 26 Oct 2023, 9:38 a.m.
Panel Version: 2.2
Ivone Leong (Genomics England Curator)
This gene has been tagged for additional expert review due to conflicting reviews. The gene rating will remain Green pending the results of the expert review.Created: 6 Nov 2023, 2:30 p.m. | Last Modified: 6 Nov 2023, 2:30 p.m.
Panel Version: 2.6
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 2:18 p.m. | Last Modified: 3 Mar 2022, 2:18 p.m.
Panel Version: 1.21
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 ReviewCreated: 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 Removed
- Expert Review
- Phenotypes
-
- Paragangliomas 6, OMIM:618464
- Paragangliomas 6, MONDO:0032767
- Tags
- OMIM
- 604165
- Clinvar variants
- Variants in SLC25A11
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag curated_removed tag was added to gene: SLC25A11.
Removed Tag, Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_demote_red was removed from gene: SLC25A11. Tag Q4_23_NHS_review was removed from gene: SLC25A11. Tag Q4_23_expert_review was removed from gene: SLC25A11.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Removed was added to SLC25A11. Rating Changed from Green List (high evidence) to No List (delete)
Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_23_demote_red tag was added to gene: SLC25A11.
Added Tag, Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_23_NHS_review tag was added to gene: SLC25A11. Tag Q4_23_expert_review tag was added to gene: SLC25A11.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SLC25A11 were changed from Paragangliomas 6, OMIM:618464 to Paragangliomas 6, OMIM:618464; Paragangliomas 6, MONDO:0032767
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: SLC25A11.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to SLC25A11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: slc25a11 has been classified as Amber List (Moderate Evidence).
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