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Fetal anomalies

Gene: GATB

Green List (high evidence)
GATB (glutamyl-tRNA amidotransferase subunit B)
EnsemblGeneIds (GRCh38): ENSG00000059691
EnsemblGeneIds (GRCh37): ENSG00000059691
OMIM: 603645, Gene2Phenotype
GATB is in 4 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Oct 2023, 3:39 p.m. | Last Modified: 10 Oct 2023, 3:39 p.m.
Panel Version: 3.111

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 10 Oct 2023, 3:39 p.m.
Last Modified: 10 Oct 2023, 3:39 p.m.
Panel version: 3.111

Arina Puzriakova (Genomics England Curator)

Confirmed with Stephanie Allen that there is sufficient evidence to classify this gene as Green (9th May 2023). Additional comments: "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 2023, 10:19 a.m. | Last Modified: 10 May 2023, 10:20 a.m.
Panel Version: 3.78
Created: 10 May 2023, 10:19 a.m.
Last Modified: 10 May 2023, 10:20 a.m.
Panel version: 3.78

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Green List (high evidence)

This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8
On 3 panels, inc. IEM. Associated with ?Combined oxidative posphorylation deficiency 41 (AR). In OMIM: Onset in utero, death in perinatal period. Prenatal: IUGR, fetal hydrops. Other features reported: Pericardial effusion, HCM, bradycardia, cardiomegaly, heart failure. Ascites. Microcephaly. Friederich et al., 2018 PMID 30283131: Family 1 (P1A and P1B): prenatal onset at 34wk and 30wk respectively; died at 2do and 1do respectively. Prenatal: hydrops and IUGR. GATB c.580_581del p.(Ser194Trpfs*15) and c.408T>G p.(Phe136Leu). Did functional analysis. Conclusion: linked to prenatal phenotypes (IUGR, fetal hydrops). Onset in utero, death in perinatal period OMIM. Relevant
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Combined oxidative phosphorylation deficiency 41, OMIM:618838

Publications

Created: 5 May 2023, 3 p.m.
Last Modified: 5 May 2023, 3 p.m.
Panel version: 3.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 41, OMIM:618838
OMIM
603645
Clinvar variants
Variants in GATB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: GATB. Tag Q2_23_NHS_review was removed from gene: GATB.

10 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to GATB. Source NHS GMS was added to GATB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

10 May 2023, Gel status: 2

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag to_be_confirmed_NHSE was removed from gene: GATB.

5 May 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: GATB were set to

5 May 2023, Gel status: 2

Added Tag, Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag to_be_confirmed_NHSE tag was added to gene: GATB. Tag Q2_23_promote_green tag was added to gene: GATB. Tag Q2_23_NHS_review tag was added to gene: GATB.

5 May 2023, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: GATB was added gene: GATB was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: GATB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GATB were set to ?Combined oxidative phosphorylation deficiency 41, OMIM:618838