Inherited phaeochromocytoma and paraganglioma
Gene: SDHB
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on mode of inheritance: Not imprinted, as in the Multiple Endocrine tumours panel.Created: 6 Feb 2016, 5:45 p.m.
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
Phenotypes for gene: SDHB were changed from Paraganglioma and Gastric Stromal Sarcoma; Paragangliomas 4, 115310Pheochromocytoma, 171300Paraganglioma and gastric stromal sarcoma, 606864Cowden syndrome 2, 612359Gastrointestinal stromal tumor, 606764 to Paragangliomas 4, OMIM:115310; Pheochromocytoma, OMIM:171300; Paraganglioma and gastric stromal sarcoma, OMIM:606864
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SDHB was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
SDHB was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Eligibility statement prior genetic testing
SDHB was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: UKGTN
SDHB was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Emory Genetics Laboratory
SDHB was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Radboud University Medical Center, Nijmegen
SDHB was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Illumina TruGenome Clinical Sequencing Services