Inherited phaeochromocytoma and paraganglioma excluding NF1

Gene: SDHA

Green List (high evidence)

SDHA (succinate dehydrogenase complex flavoprotein subunit A)
EnsemblGeneIds (GRCh38): ENSG00000073578
EnsemblGeneIds (GRCh37): ENSG00000073578
OMIM: 600857, Gene2Phenotype
SDHA is in 27 panels

4 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)

Treena Cranston (Oxford)

Green List (high evidence)

UKGTN approved. Reduced penetrance
Created: 30 Sep 2015, 12:09 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
PCC; PGL

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

11 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: sdha 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: SDHA was added gene: SDHA was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHA were set to Hereditary Paraganglioma-Pheochromocytoma Syndrome; Leigh syndrome, 256000Mitochondrial respiratory chain complex II deficiency, 252011Cardiomyopathy, dilated, 1GG, 613642Paragangliomas 5, 614165