Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Likely inborn error of metabolism - targeted testing not possible v4.51 | CRLS1 | Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: CRLS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.51 | CRLS1 | Arina Puzriakova reviewed gene: CRLS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.50 | CRLS1 |
Achchuthan Shanmugasundram Source NHS GMS was added to CRLS1. Source Expert Review Green was added to CRLS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.10 | CRLS1 | Achchuthan Shanmugasundram Classified gene: CRLS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.10 | CRLS1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as there are three unrelated cases and supporting functional evidence to link this gene with a mitochondrial metabolic disorder. This gene has already been associated with this phenotype in OMIM (MIM #620167). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.10 | CRLS1 | Achchuthan Shanmugasundram Gene: crls1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.10 | CRLS1 | Achchuthan Shanmugasundram Classified gene: CRLS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.10 | CRLS1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as there are three unrelated cases and supporting functional evidence to link this gene with a mitochondrial metabolic disorder. This gene has already been associated with this phenotype in OMIM (MIM #620167). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.10 | CRLS1 | Achchuthan Shanmugasundram Gene: crls1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.9 | CRLS1 | Achchuthan Shanmugasundram Classified gene: CRLS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.9 | CRLS1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as there are three unrelated cases and supporting functional evidence to link this gene with a mitochondrial metabolic disorder. This gene has already been associated with this phenotype in OMIM (MIM #620167). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.9 | CRLS1 | Achchuthan Shanmugasundram Gene: crls1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.9 | CRLS1 | Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: CRLS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.9 | CRLS1 | Achchuthan Shanmugasundram Classified gene: CRLS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.9 | CRLS1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as there are three unrelated cases and supporting functional evidence to link this gene with a mitochondrial metabolic disorder. This gene has already been associated with this phenotype in OMIM (MIM #620167). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.9 | CRLS1 | Achchuthan Shanmugasundram Gene: crls1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.8 | CRLS1 |
Achchuthan Shanmugasundram gene: CRLS1 was added gene: CRLS1 was added to Inborn errors of metabolism. 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 GREEN Added comment: 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. Lipidomics in fibroblasts from 2 patients demonstrated that cardiolipin was reduced, cardiolipin acyl side chains had an abnormal distribution, and substrates of CRLS1 were abnormally elevated, including an elevation of phosphatidylglycerol. Sources: Literature |