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DDG2P

Gene: MRPS2

Amber List (moderate evidence)

MRPS2 (mitochondrial ribosomal protein S2)
EnsemblGeneIds (GRCh38): ENSG00000122140
EnsemblGeneIds (GRCh37): ENSG00000122140
OMIM: 611971, Gene2Phenotype
MRPS2 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P in March 2019: Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: biallelic.
Created: 22 Apr 2019, 7:34 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • DD-Gene2Phenotype
Phenotypes
  • Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies
OMIM
611971
Clinvar variants
Variants in MRPS2
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

22 Apr 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: MRPS2 was added gene: MRPS2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MRPS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS2 were set to 29576219 Phenotypes for gene: MRPS2 were set to Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies Mode of pathogenicity for gene: MRPS2 was set to Other - please provide details in the comments