Inherited phaeochromocytoma and paraganglioma excluding NF1

Gene: SDHB

Green List (high evidence)

SDHB (succinate dehydrogenase complex iron sulfur subunit B)
EnsemblGeneIds (GRCh38): ENSG00000117118
EnsemblGeneIds (GRCh37): ENSG00000117118
OMIM: 185470, Gene2Phenotype
SDHB is in 23 panels

5 reviews

Ivone Leong (Genomics England Curator)

Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 11 Mar 2019, 1:23 p.m.

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Katie Snape (South London GMC)

Green List (high evidence)

Ellen Thomas (Genomics England Curator)

Comment on mode of inheritance: Not imprinted, as in the Multiple Endocrine tumours panel.
Created: 6 Feb 2016, 5:45 p.m.

Treena Cranston (Oxford)

Green List (high evidence)

Widely published and UKGTN approved.
Created: 30 Sep 2015, 10:52 a.m.

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

Phenotypes
HNPGL,PCC,GIST,renal tumour

Publications

History Filter Activity

11 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: sdhb has been classified as Green List (High Evidence).

11 Mar 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: SDHB was added gene: SDHB was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHB were set to Paraganglioma and Gastric Stromal Sarcoma; Paragangliomas 4, 115310Pheochromocytoma, 171300Paraganglioma and gastric stromal sarcoma, 606864Cowden syndrome 2, 612359Gastrointestinal stromal tumor, 606764