Mitochondrial disorders
Gene: GATBThe rating of this gene has been updated from Amber to Red following NHS Genomic Medicine Service approval.Created: 29 Jul 2022, 1:47 p.m. | Last Modified: 29 Jul 2022, 1:47 p.m.
Panel Version: 2.109
Single family reported with two affected siblings.Created: 20 Mar 2020, 6:44 a.m. | Last Modified: 20 Mar 2020, 6:44 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial cardiomyopathy
Publications
Comment on list classification: This rating is based on the evidence that GATB, GATC & QRSL1 are functioning together in the development of this condition.Created: 22 Aug 2019, 10:08 a.m. | Last Modified: 22 Aug 2019, 10:08 a.m.
Panel Version: 1.482
no mutation reports in literatureCreated: 4 Feb 2016, 6:10 p.m.
This gene was submitted as "PET112" in the expert list, which is likely to correspond to this HGNC-approved symbol.Created: 1 Jul 2015, 10:41 a.m.
Mode of inheritance for gene: GATB was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GATB were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to ?Combined oxidative phosphorylation deficiency 41, OMIM:618838
Source Expert Review Red was added to GATB. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Publications for gene: GATB were set to
Gene: gatb has been classified as Amber List (Moderate Evidence).
GATB was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen
GATB was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list