Mitochondrial disease
Gene: SLIRP
SLIRP (SRA stem-loop interacting RNA binding protein)
EnsemblGeneIds (GRCh38): ENSG00000119705
EnsemblGeneIds (GRCh37): ENSG00000119705
OMIM: 610211, Gene2Phenotype
SLIRP is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000119705
EnsemblGeneIds (GRCh37): ENSG00000119705
OMIM: 610211, Gene2Phenotype
SLIRP is in 2 panels
1 review
Belinda Chong (Victorian Clinical Genetics Services)
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
Sources: LiteratureCreated: 3 Dec 2021, 3:38 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
-
- Expert Review Red
- 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
3 Dec 2021, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slirp has been classified as Red List (Low Evidence).
3 Dec 2021, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slirp has been classified as Red List (Low Evidence).
3 Dec 2021, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Belinda Chong (Victorian Clinical Genetics Services)gene: SLIRP was added gene: SLIRP was added to Mitochondrial disease. 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