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  3. MRPL12
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Possible mitochondrial disorder - nuclear genes

Gene: MRPL12

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

5 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with functional studies
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Growth retardation and neurological deterioration

Publications

Created: 10 May 2019, 1:02 p.m.

Panel version: 0.134

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 1:28 p.m.
Created: 29 Mar 2019, 1:28 p.m.

Panel version: 0.35

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
Growth retardation and neurological deterioration

Publications

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

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

Created: 30 Aug 2018, 8:07 a.m.

Panel version: Imported from Mitochondrial disorders panel version 1.67

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:31 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Growth retardation and neurological deterioration
OMIM
602375
Clinvar variants
Variants in MRPL12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: mrpl12 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: MRPL12 was added gene: MRPL12 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MRPL12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPL12 were set to 23603806 Phenotypes for gene: MRPL12 were set to Growth retardation and neurological deterioration