Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Possible mitochondrial disorder - nuclear genes

Gene: GATB

Amber List (moderate evidence)

GATB (glutamyl-tRNA amidotransferase subunit B)
EnsemblGeneIds (GRCh38): ENSG00000059691
EnsemblGeneIds (GRCh37): ENSG00000059691
OMIM: 603645, Gene2Phenotype
GATB is in 3 panels

5 reviews

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: 4 Jun 2019, 4:10 p.m.

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One family with two affected compound heterozygotes reported; however, GATB, GATC & QRSL1 function together and this is supported by functional work, therefore classified as green when combining cases across the 3 genes.
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial cardiomyopathy disorder

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial cardiomyopathy disorder

Publications

Shamima Rahman (UCL Institute of Child Health)

Red List (low evidence)

no mutation reports in literature
Created: 4 Feb 2016, 6:10 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene should remain Amber, as there is not enough evidence for the specific gene, as agreed for rules on gene family members.
Created: 5 Jun 2019, 1:04 p.m.
Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Amber.
Created: 25 Feb 2019, 5:29 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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mitochondrial cardiomyopathy disorder
OMIM
603645
Clinvar variants
Variants in GATB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jun 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: gatb has been classified as Amber List (Moderate Evidence).

4 Jun 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gatb has been classified as Amber List (Moderate Evidence).

25 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: gatb has been classified as Amber List (Moderate Evidence).

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: GATB was added gene: GATB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GATB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GATB were set to 30283131 Phenotypes for gene: GATB were set to Mitochondrial cardiomyopathy disorder