Mitochondrial disorders
Gene: SDHAF1Comment on phenotypes: Mitochondrial complex II deficiency, 252011Created: 23 May 2019, 3:21 p.m.
Comment 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: Multiple 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, 3:20 p.m.
Publications for gene: SDHAF1 were set to
Phenotypes for gene: SDHAF1 were changed from Isolated complex II deficiency; Mitochondrial complex II deficiency, 252011; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex II Deficiency to Mitochondrial complex II deficiency, 252011
Phenotypes for gene: SDHAF1 were changed from Isolated complex II deficiency; Mitochondrial complex II deficiency, 252011; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex II Deficiency to Isolated complex II deficiency; Mitochondrial complex II deficiency, 252011; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex II Deficiency
Gene: sdhaf1 has been classified as Green List (High Evidence).
Source NHS GMS was added to SDHAF1. Source Expert Review Green was added to SDHAF1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Victorian Clinical Genetics Services was added to SDHAF1. Panel: Mitochondrial disorders
Model of inheritance for gene SDHAF1 was changed to BIALLELIC, autosomal or pseudoautosomal
SDHAF1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene SDHAF1 was changed to BIALLELIC, autosomal or pseudoautosomal
SDHAF1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene SDHAF1 was changed to BIALLELIC, autosomal or pseudoautosomal
SDHAF1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene SDHAF1 was changed to BIALLELIC, autosomal or pseudoautosomal
SDHAF1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
SDHAF1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services