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Possible mitochondrial disorder - nuclear genes

Gene: SLIRP

No list

SLIRP (SRA stem-loop interacting RNA binding protein)
EnsemblGeneIds (GRCh38): ENSG00000119705
EnsemblGeneIds (GRCh37): ENSG00000119705
OMIM: 610211, Gene2Phenotype
SLIRP is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Mitochondrial encephalomyopathy with complex I and IV deficiency
OMIM
610211
Clinvar variants
Variants in SLIRP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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