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  2. Gastrointestinal Stromal Tumour
  3. SDHA
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Gastrointestinal Stromal Tumour

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 15 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. GIST reported in condition.
Sources: Expert list, Expert Review
Created: 12 Sep 2024, 4:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Gastrointestinal stromal tumor, MONDO:0011719; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 5, MIM#614165

Created: 12 Sep 2024, 4:50 a.m.

Panel version: 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Gastrointestinal stromal tumor, MONDO:0011719
  • Hereditary pheochromocytoma-paraganglioma, MONDO:0017366
  • Pheochromocytoma/paraganglioma syndrome 5, MIM#614165
OMIM
600857
Clinvar variants
Variants in SDHA
Penetrance
None
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

12 Sep 2024, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: SDHA was added gene: SDHA was added to Gastrointestinal Stromal Tumour. Sources: Expert list,Expert Review Mode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHA were set to Gastrointestinal stromal tumor, MONDO:0011719; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 5, MIM#614165 Review for gene: SDHA was set to GREEN