Likely inborn error of metabolism - targeted testing not possible
Gene: MRPS7
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
single mutation report in literatureCreated: 4 Feb 2016, 3:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS7 were set to
Mode of inheritance for gene: MRPS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: MRPS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: MRPS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: MRPS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: MRPS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: MRPS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Gene: mrps7 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: MRPS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: MRPS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: mrps7 has been classified as Amber List (Moderate Evidence).
Sarah Leigh: Associated with phenotype in O
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)