Mitochondrial disorders
Gene: SDHDComment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex II deficiency (Version 0.16).Created: 23 May 2019, 3:25 p.m.
Comment on list classification: Carl Fratter also confirmed that this gene should be promoted from red to green.Created: 7 Mar 2016, 6:14 p.m.
Phenotypes for gene: SDHD were changed from Mitochondrial Diseases; Isolated complex II deficiency to Mitochondrial respiratory chain complex II deficiency 252011
Publications for gene: SDHD were set to
Gene: sdhd has been classified as Green List (High Evidence).
Source NHS GMS was added to SDHD. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SDHD was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SDHD was added to All recognised syndromes and those with suggestive featurespanel. Sources: Emory Genetics Laboratory,Expert,Expert list
SDHD was added to All recognised syndromes and those with suggestive featurespanel. Sources: Emory Genetics Laboratory,Expert,Expert list
SDHD was added to All recognised syndromes and those with suggestive featurespanel. Sources: Emory Genetics Laboratory,Expert,Expert list