Inherited phaeochromocytoma and paraganglioma excluding NF1
Gene: SDHDComment 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.
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
Gene: sdhd has been classified as Green List (High Evidence).
gene: SDHD was added gene: SDHD was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Phenotypes for gene: SDHD were set to Hereditary Paraganglioma-Pheochromocytoma Syndrome; Paragangliomas 1, with or without deafness, 168000Pheochromocytoma, 171300Carcinoid tumors, intestinal, 114900Merkel cell carcinoma, somaticParaganglioma and gastric stromal sarcoma, 606864Cowden syndrome 3, 615106