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Inherited predisposition to GIST

Gene: SDHD

Green List (high evidence)

SDHD (succinate dehydrogenase complex subunit D)
EnsemblGeneIds (GRCh38): ENSG00000204370
EnsemblGeneIds (GRCh37): ENSG00000204370
OMIM: 602690, Gene2Phenotype
SDHD is in 25 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Comment 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

Ivone Leong (Genomics England Curator)

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

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Lara Hawkes (Genomics England)

Green List (high evidence)

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

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

History Filter Activity

8 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SDHD were changed from to Paraganglioma and gastric stromal sarcoma, OMIM:606864; Carney-Stratakis syndrome, MONDO:0011740

30 Jan 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: SDHD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

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