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| Monogenic hearing loss v3.11 | CRLS1 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene should be rated GREEN as it has been associated with auditory neuropathy in two unrelated cases with homozygous variant and with sensorineural hearing loss in an additional case with compound heterozygous variant.; to: Comment on list classification: This gene should be rated GREEN as it has been associated with auditory neuropathy in two unrelated cases with homozygous variant and with sensorineural hearing loss in an additional case with compound heterozygous variant. This is also supported by functional studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v3.11 | CRLS1 | Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: CRLS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v3.11 | CRLS1 | Achchuthan Shanmugasundram Classified gene: CRLS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v3.11 | CRLS1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as it has been associated with auditory neuropathy in two unrelated cases with homozygous variant and with sensorineural hearing loss in an additional case with compound heterozygous variant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v3.11 | CRLS1 | Achchuthan Shanmugasundram Gene: crls1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v3.10 | CRLS1 | Achchuthan Shanmugasundram Publications for gene: CRLS1 were set to 5147173 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v3.9 | CRLS1 | Achchuthan Shanmugasundram edited their review of gene: CRLS1: Changed publications to: 35147173 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v3.9 | CRLS1 |
Achchuthan Shanmugasundram gene: CRLS1 was added gene: CRLS1 was added to Monogenic hearing loss. Sources: Literature Mode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRLS1 were set to 5147173 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. Functional studies using patient-derived fibroblasts provide evidence that CRLS1 variants cause mitochondrial disease. Sources: Literature |
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