Possible mitochondrial disorder - nuclear genes
Gene: SLIRP
Comment on list classification: As reviewed by Zornitza Stark, there is one case with compound heterozygous SLIRP variants and the gene should be rated red.Created: 12 Apr 2024, 10:10 p.m. | Last Modified: 12 Apr 2024, 10:10 p.m.
Panel Version: 3.105
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Single Dutch non-consanguineous patient having mitochondrial encephalomyopathy with complex I and complex IV deficiency, whole exome sequencing revealed two compound heterozygous variants (NM_031210.5:c.248_252del; NP_112487.1:p.(Ile83Argfs*10) and NC_000014.8:g.78177003 A > G; NM_031210.5:c.98-178 A > G) in SLIRP. Report SLIRP variants as a novel cause of mitochondrial encephalomyopathy with OXPHOS deficiency
Sources: LiteratureCreated: 4 Dec 2021, 2:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial encephalomyopathy with complex I and IV deficiency
Publications
Gene: slirp has been classified as Red List (Low Evidence).
gene: SLIRP was added gene: SLIRP was added to Possible mitochondrial disorder - nuclear genes. Sources: Literature Mode of inheritance for gene: SLIRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLIRP were set to 34426662 Phenotypes for gene: SLIRP were set to Mitochondrial encephalomyopathy with complex I and IV deficiency Review for gene: SLIRP was set to RED