Inherited white matter disorders
Gene: MRPS16
Another case in this recent publication? But perinatal lethal, somewhat limited clinical information as part of a large cohort.Created: 24 Jul 2018, 2:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Insufficient evidence but look again as likely to be able to promote soon.Created: 6 Oct 2016, 9:49 a.m.
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. However, there is only 1 case reported in OMIM and found in a literature search (PMID: 15505824), with a functional study examining the variant (PMID: 18539099). On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Combined oxidative phosphorylation deficiency 2. Red gene in the Mitochondrial panel version 1.7.Created: 16 Aug 2016, 11:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for MRPS16 were set to 15505824; 25655951; 18539099
Phenotypes for MRPS16 were set to Combined oxidative phosphorylation deficiency 2;Mitochondrial Leukoencephalopathy;General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications for MRPS16 were set to 15505824;25655951
This gene has been classified as Red List (Low Evidence).
MRPS16 was added to Inherited white matter disorderspanel. Sources: Expert list
MRPS16 was created by [email protected]