Inherited predisposition to GIST
Gene: SDHDComment on phenotypes: This gene is also associated with Mitochondrial complex II deficiency, nuclear type 3 (MIM# 619167); Paragangliomas 1, with or without deafness (MIM# 168000); Pheochromocytoma (MIM# 171300)Created: 8 Mar 2021, 12:25 p.m. | Last Modified: 8 Mar 2021, 12:25 p.m.
Panel Version: 1.10
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jul 2019, 1:06 p.m. | Last Modified: 31 Jul 2019, 1:06 p.m.
Panel Version: 0.21
Variants in this GENE are reported as part of current diagnostic practice
Tumor Suppressor.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial Paraganglioma and Pheochromocytoma
Phenotypes for gene: SDHD were changed from to Paraganglioma and gastric stromal sarcoma, OMIM:606864; Carney-Stratakis syndrome, MONDO:0011740
Mode of inheritance for gene: SDHD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: sdhd has been classified as Green List (High Evidence).
gene: SDHD was added gene: SDHD was added to Inherited predisposition to GIST. Sources: Expert List,NHS GMS Mode of inheritance for gene: SDHD was set to