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| Syndromic Retinopathy v1.2 | DSCAM | chirag patel Marked gene: DSCAM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v1.2 | DSCAM | chirag patel Gene: dscam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v1.2 | DSCAM | chirag patel Classified gene: DSCAM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v1.2 | DSCAM | chirag patel Gene: dscam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v1.1 | DSCAM |
chirag patel gene: DSCAM was added gene: DSCAM was added to Syndromic Retinopathy. Sources: Literature Mode of inheritance for gene: DSCAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSCAM were set to 42063257; 28600779; 33170561 Phenotypes for gene: DSCAM were set to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related Review for gene: DSCAM was set to GREEN Added comment: AR syndromic disorder characterised by moderate-severe neurodevelopmental delay, focal seizures, short stature, poor vision, nystagmus, and retinal dysfunction (6 individuals from 4 families). PMID 42063257 - 4 new individuals from 3 unrelated families (one individual is sibling of case reported ion PMID 28600779), presenting with developmental delay (mod-severe), intellectual disability (mod-severe), early‑onset focal seizures, short stature (range -2 to -3.9SD), poor vision, congenital nystagmus and retinal dysfunction. WES/WGS identified biallelic LOF variants in DSCAM (nonsense, frameshift, exon duplications, splice). Heterozygote parents of individuals did not have any neurodevelopmental or ocular issues. DSCAM has low biological tolerance for both LoF and missense variation. Previous mouse and chicken DSCAM knock‑out models recapitulate the retinal phenotype (no allele‑specific rescue). PMID 28600779 - 1 individual from consanguineous Saudi family with developmental delay, intellectual disability, short stature (-3.5SD), seizures, poor vision, nystagmus and retinal dysfunction. WES identified a homozygous splice site variant (c.4132+2T>A). Parental phenotype not provided. PMID 33170561 - 1 individual from consanguineous family with global developmental delay, normal stature (-1SD), poor vision, nystagmus and retinopathy. WGS identified a homozygous 1.14Mb deletion at 21q22.2 removing DSCAM and 3 other genes. Sources: Literature |
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| Syndromic Retinopathy v0.260 | chirag patel Copied gene DSCAM from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.260 | DSCAM |
chirag patel gene: DSCAM was added gene: DSCAM was added to Syndromic Retinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DSCAM was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: DSCAM were set to 42063257; 28600779; 33170561; 34253863; 32807774; 21904980; 28191889; 27824329; 30095639; 23671607 Phenotypes for gene: DSCAM were set to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260 |
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