Possible mitochondrial disorder - nuclear genes

Gene: SLIRP

Red List (low evidence)

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

Red List (low evidence)

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: Literature

Created: 4 Dec 2021, 2:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial encephalomyopathy with complex I and IV deficiency

Publications

• 34426662