Possible mitochondrial disorder - nuclear genes
Gene: CRLS1
Consensus opinion from the 3 specialist mitochondrial providers.Created: 31 Jul 2023, 9:59 a.m. | Last Modified: 31 Jul 2023, 9:59 a.m.
Panel Version: 3.33
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
620167 Combined oxidative phosphorylation deficiency 57
Comment on list classification: This gene should be rated GREEN as it has been associated with mitochondrial disorders, as identified from three unrelated cases, and supported by functional evidence.Created: 1 Mar 2023, 7:33 p.m. | Last Modified: 1 Mar 2023, 7:33 p.m.
Panel Version: 2.7
Three individuals from two unrelated families were identified with the same homozygous variant in CRLS1 (p.Ile109Asn). They presented with a mitochondrial disorder characterized by an evolving pattern of cardiomyopathy, encephalopathy, bilateral auditory neuropathy spectrum disorder, bull’s eye maculopathy, diabetes insipidus, autonomic instability and low complex IV activity in skeletal muscle.
A fourth individual was identified with a compound heterozygous CRLS1 variant (p.Ala172Asp/ p.Leu217Phe) that presented with developmental regression beginning in late infancy, with acquired microcephaly, sensorineural hearing loss and impaired vision.
Functional studies using patient-derived fibroblasts provide evidence that CRLS1 variants cause mitochondrial disease.
Sources: LiteratureCreated: 1 Mar 2023, 7:28 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 57, OMIM:620167
Publications
Tag Q3_23_NHS_review tag was added to gene: CRLS1.
Tag Q1_23_promote_green tag was added to gene: CRLS1.
Gene: crls1 has been classified as Amber List (Moderate Evidence).
gene: CRLS1 was added gene: CRLS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Literature Mode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRLS1 were set to 35147173 Phenotypes for gene: CRLS1 were set to Combined oxidative phosphorylation deficiency 57, OMIM:620167 Review for gene: CRLS1 was set to AMBER