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STRs in panel
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Inborn errors of metabolism

Gene: MRPL12

Red List (low evidence)

MRPL12 (mitochondrial ribosomal protein L12)
EnsemblGeneIds (GRCh38): ENSG00000262814
EnsemblGeneIds (GRCh37): ENSG00000262814
OMIM: 602375, Gene2Phenotype
MRPL12 is in 4 panels

4 reviews

Catherine Snow (Genomics England)

Red List (low evidence)

A single reported family in the literature therefore classified as Red.
Sources: Expert list
Created: 21 Oct 2019, 2:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple respiratory chain complex deficiencies (disorders of protein synthesis)

Publications

Ivone Leong (Genomics England Curator)

No other cases were found in literature; therefore, this gene will remain a red gene until further evidence is available.
Created: 2 May 2019, 12:28 p.m.

Zornitza Stark (Australian Genomics)

Red List (low evidence)

I can only find a single reported family in the literature.
Created: 30 Aug 2018, 8:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
Unknown
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • No OMIM phenotype
OMIM
602375
Clinvar variants
Variants in MRPL12
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: MRPL12 was added gene: MRPL12 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MRPL12 was set to Unknown Phenotypes for gene: MRPL12 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype