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| Syndromic Retinopathy v0.207 | MCOLN1 | Zornitza Stark Marked gene: MCOLN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.207 | MCOLN1 | Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.207 | MCOLN1 | Zornitza Stark Classified gene: MCOLN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.207 | MCOLN1 | Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.206 | MCOLN1 |
Zornitza Stark gene: MCOLN1 was added gene: MCOLN1 was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCOLN1 were set to 17239335; 25156245; 35205297 Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV, MIM# 252650; MONDO:0009653 Review for gene: MCOLN1 was set to GREEN Added comment: patients with MCOLN1-associated mucolipidosis IV present with ocular phenotypes including retinal dystrophy. Mucolipidosis type IV caused by biallelic variants in MCOLN1 gene ism a lysosomal disease that primarily affects the central nervous system. It manifests with severely impaired psychomotor development, and later onset, gradual neurological decline paralleled by cerebellar degeneration and neuroaxonal injury. In addition, they also manifest retinal dystrophy, which develops in the first years of life and rapidly progresses in adolescence, leaving patients legally blind by the second decade (PMID:33965501). The following are some of the reported cases: PMID:17239335 - Compound heterozygous variants in MCOLN1 were identified in a patient with mucolipidosis type IV (ML IV), who had low visual acuity and cloudy corneas since 2 years of age, progressive decrease in visual acuity since the age of 9 years. PMID:25156245 - An Italian child with ML IV was identified with homozygous MCOLN1 variants (c.395_397delCTG & c.468_474dupTTGGACC), while his parents were heterozygous for the same variants. Ophthalmological manifestations included esotropia, bilateral corneal clouding and severe myopia. PMID:35205297 - Six patients from two Omani families with ML IV were identified with a novel variant (c.237+5G>A) in MCOLN1 gene, which is not present in control subjects screened with a high-resolution melting (HRM) assay. The patients displayed ophthalmic manifestations including corneal haziness, pigmentary retinopathy and ERG-rod cone dysfunction. Sources: Expert list |
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