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Intellectual disability

Gene: MRPS34

Green List (high evidence)

MRPS34 (mitochondrial ribosomal protein S34)
EnsemblGeneIds (GRCh38): ENSG00000074071
EnsemblGeneIds (GRCh37): ENSG00000074071
OMIM: 611994, Gene2Phenotype
MRPS34 is in 7 panels

1 review

Catherine Snow (Genomics England)

Comment on list classification: Following advice from Genomics England Clinical Team MRPS34 will be classified as Green. Advice was "there are sufficient cases and an appropriate phenotype. There is an early onset of developmental problems, associated with regression. There are biochemical tests including CSF lactate and a suggestive MRI pattern to follow up on in variant positive patients. Therefore I would include as green."
Created: 24 Jun 2019, 9:28 a.m. | Last Modified: 24 Jun 2019, 9:28 a.m.
Panel Version: 0.190
Comment on list classification: Gene identified in literature PMID:30914295 as missing in PanelApp compared to other curated gene list for ID genes.

MRPS34 is a probable Gen2Phen gene and phenotype of Global DD is relevant to ID panel.

At least 4 variants reported in 3 unrelated cases (PMID: 28777931) and is in other gene panels including Mitochondrial disorders (Version 1.412)
Created: 29 May 2019, 10:31 a.m. | Last Modified: 25 Jul 2019, 1:49 p.m.
Panel Version: 0.205

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidativephosphorylation deficiency 32, 617664
OMIM
611994
Clinvar variants
Variants in MRPS34
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 3

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene MRPS34 was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2019, Gel status: 3

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

Catherine Snow (Genomics England)

gene: MRPS34 was added gene: MRPS34 was added to Intellectual disability. Sources: Expert Review Green,Literature Mode of inheritance for gene: MRPS34 was set to Publications for gene: MRPS34 were set to 30914295; 28777931 Phenotypes for gene: MRPS34 were set to Combined oxidativephosphorylation deficiency 32, 617664