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| Cardiomyopathy_Paediatric v0.151 | CRLS1 | Zornitza Stark Phenotypes for gene: CRLS1 were changed from Mitochondrial disease MONDO:0044970 CRLS1-related to Combined oxidative phosphorylation deficiency 57, MIM# 620167 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.126 | CRLS1 | Zornitza Stark Marked gene: CRLS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.126 | CRLS1 | Zornitza Stark Gene: crls1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.126 | CRLS1 | Zornitza Stark Phenotypes for gene: CRLS1 were changed from 35147173 to Mitochondrial disease MONDO:0044970 CRLS1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.125 | CRLS1 | Zornitza Stark Publications for gene: CRLS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.124 | CRLS1 | Zornitza Stark Classified gene: CRLS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.124 | CRLS1 | Zornitza Stark Gene: crls1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.123 | CRLS1 | Michelle Torres reviewed gene: CRLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35147173; Phenotypes: Mitochondrial disease MONDO:0044970 CRLS1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.123 | CRLS1 | Michelle Torres Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.123 | CRLS1 |
Michelle Torres gene: CRLS1 was added gene: CRLS1 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRLS1 were set to 35147173 Review for gene: CRLS1 was set to AMBER Added comment: - Three families (4 individuals) with cardiolipin deficiency. - Two families (one consanguineous with 2 affected siblings) with homozygous the p.(Ile109Asn) had infantile progressive encephalopathy, bull’s eye maculopathy, auditory neuropathy, diabetes insipidus, autonomic instability, cardiac defects and early death. - The fourth individual cHet p.(Ala172Asp) and p.(Leu217Phe) presented with chronic encephalopathy with neurodevelopmental regression, congenital nystagmus with decreased vision, sensorineural hearing loss, failure to thrive and acquired microcephaly. - Functional studies on patient cells showed increased levels of the substrate of CRLS1 and impaired mitochondrial morphology and biogenesis *Two individuals presented cardiac defects: one with LVNC, biventricular systolic dysfunction and evolved to HCM; the other one had biventricular dysfunction Sources: Literature |
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