Mitochondrial disorders
Gene: GATBEnsemblGeneIds (GRCh38): ENSG00000059691
EnsemblGeneIds (GRCh37): ENSG00000059691
OMIM: 603645, Gene2Phenotype
GATB is in 4 panels
5 reviews
Arina Puzriakova (Genomics England Curator)
The 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
Zornitza Stark (Australian Genomics)
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
Sarah Leigh (Genomics England Curator)
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
Shamima Rahman (UCL Institute of Child Health)
no mutation reports in literatureCreated: 4 Feb 2016, 6:10 p.m.
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- ?Combined oxidative phosphorylation deficiency 41, OMIM:618838
- OMIM
- 603645
- Clinvar variants
- Variants in GATB
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: GATB was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GATB were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to ?Combined oxidative phosphorylation deficiency 41, OMIM:618838
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Red was added to GATB. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: GATB were set to
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: gatb has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)GATB was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)GATB was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list