Inherited phaeochromocytoma and paraganglioma
Gene: SDHD
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Comment on mode of inheritance: All 3 reviewers agreed on this imprinting status in the Multiple Endocrine tumours panel.Created: 6 Feb 2016, 5:46 p.m.
Widely reported and UKGTN approved. Inheritance has a parent of origin effect rather than classic imprinting. Phenotype is usually paternally inherited although there are rare reports of maternal inheritance (PMID 21937622)Created: 30 Sep 2015, 11:20 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HNPGL,PCC,GIST,renal tumour
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SDHD was changed to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
SDHD was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Eligibility statement prior genetic testing
SDHD was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Expert
SDHD was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: UKGTN
SDHD was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Illumina TruGenome Clinical Sequencing Services
SDHD was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Emory Genetics Laboratory
SDHD was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Radboud University Medical Center, Nijmegen