Inherited white matter disorders

Gene: MRPS16

I don't know

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

• 28749478

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.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

• Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_673

Variants in this GENE are reported as part of current diagnostic practice