Genomic imprinting

Gene: SDHD

Differing opinions on the role of SDHD in imprinting have been reported: PMID 15064708 reports "paternal transmission of the disease can be explained by a somatic genetic mechanism targeting both the SDHD gene on 11q23 and a paternally imprinted gene on 11p15.5, rather than imprinting of SDHD". PMID 11391796 reports two affected males, with differing variants transmitted paraganglioma to their children and that monoallelic expression of the mutant (paternal) allele was observed in one case. Also an affected female had 2 unaffected children, consistent with genomic imprinting. However, PMID 18211978 reports maternal transmission of a SDHD-linked paraganglioma to her son, who displayed hypermethylation.

Created: 2 Feb 2021, 6:24 p.m. | Last Modified: 2 Feb 2021, 6:24 p.m.

Panel Version: 0.89

Comment on mode of inheritance: The MOI for SDHD was agreed upon by three NHS clinicians on the Multiple endocrine tumours panel (https://panelapp.genomicsengland.co.uk/panels/36/gene/SDHD/)

Created: 12 Jan 2021, 1:03 p.m. | Last Modified: 12 Jan 2021, 1:03 p.m.

Panel Version: 0.54

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Phenotypes
From the Neuro-endocrine Tumours- PCC and PGL gene panel