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  2. Likely inborn error of metabolism
  3. MRPS7
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Likely inborn error of metabolism

Gene: MRPS7

Amber List (moderate evidence)
MRPS7 (mitochondrial ribosomal protein S7)
EnsemblGeneIds (GRCh38): ENSG00000125445
EnsemblGeneIds (GRCh37): ENSG00000125445
OMIM: 611974, Gene2Phenotype
MRPS7 is in 3 panels

2 reviews

Catherine Snow (Genomics England)

Red List (low evidence)

Single family reported in the PMID: 25556185 no further evidence since this publication.
Created: 21 Oct 2019, 3:07 p.m. | Last Modified: 21 Oct 2019, 3:07 p.m.
Panel Version: 1.372

Publications

Created: 21 Oct 2019, 3:07 p.m.
Last Modified: 21 Oct 2019, 3:07 p.m.
Panel version: 1.372

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

single mutation report in literature
Created: 4 Feb 2016, 3:21 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 4 Feb 2016, 3:21 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
OMIM
611974
Clinvar variants
Variants in MRPS7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Nov 2019, Gel status: 2

Set publications

Catherine Snow (Genomics England)

Publications for gene: MRPS7 were set to

18 Nov 2019, Gel status: 2

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene: MRPS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

18 Nov 2019, Gel status: 2

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene: MRPS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

18 Nov 2019, Gel status: 2

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene: MRPS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

18 Nov 2019, Gel status: 2

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene: MRPS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

18 Nov 2019, Gel status: 2

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene: MRPS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

18 Nov 2019, Gel status: 2

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene: MRPS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

18 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: mrps7 has been classified as Amber List (Moderate Evidence).

18 Nov 2019, Gel status: 2

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene: MRPS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

18 Nov 2019, Gel status: 2

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene: MRPS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

18 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: mrps7 has been classified as Amber List (Moderate Evidence).

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: MRPS7 was added gene: MRPS7 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MRPS7 was set to Unknown Phenotypes for gene: MRPS7 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)