Inherited phaeochromocytoma and paraganglioma excluding NF1

Gene: DLST

Amber List (moderate evidence)

DLST (dihydrolipoamide S-succinyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000119689
EnsemblGeneIds (GRCh37): ENSG00000119689
OMIM: 126063, Gene2Phenotype
DLST is in 4 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. Therefore, 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
Sources: Expert Review
Created: 28 Jan 2021, 2:58 p.m.

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

Phenotypes
Paragangliomas 7, OMIM:618475

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Paragangliomas 7, OMIM:618475
Tags
for-review
OMIM
126063
Clinvar variants
Variants in DLST
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: dlst 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: DLST was added gene: DLST was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review for-review tags were added to gene: DLST. Mode of inheritance for gene: DLST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DLST were set to 30929736; 33180916 Phenotypes for gene: DLST were set to Paragangliomas 7, OMIM:618475 Review for gene: DLST was set to GREEN