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| Mendeliome v2.40 | DSCAM | chirag patel Phenotypes for gene: DSCAM were changed from Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260 to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.39 | DSCAM | chirag patel Phenotypes for gene: DSCAM were changed from Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260 to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.38 | DSCAM |
chirag patel changed review comment from: AR syndromic disorder characterised by moderate-severe neurodevelopmental delay, focal seizures, short stature, poor vision, nystagmus, and retinal dysfunction. 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. NB: Green for biallelic, Amber for monoallelic; to: 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. NB: Green for biallelic, Amber for monoallelic |
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| Mendeliome v2.30 | DSCAM | chirag patel Phenotypes for gene: DSCAM were changed from Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260 to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.29 | DSCAM | chirag patel Phenotypes for gene: DSCAM were changed from Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260 to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.29 | DSCAM | chirag patel Phenotypes for gene: DSCAM were changed from Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260 to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.28 | DSCAM | chirag patel Phenotypes for gene: DSCAM were changed from Autism MONDO:0005260 to Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Autism MONDO:0005260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.27 | DSCAM | chirag patel Publications for gene: DSCAM were set to 34253863; 32807774; 28600779; 21904980; 28191889; 27824329; 30095639; 23671607 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.26 | DSCAM | chirag patel Mode of inheritance for gene: DSCAM was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.25 | DSCAM | chirag patel reviewed gene: DSCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 42063257, 28600779, 33170561; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), DSCAM-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.0 | DSCAM | Gene migrated from ENSG00000171587 to ENSG00000171587 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14753 | DSCAM | Zornitza Stark Marked gene: DSCAM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14753 | DSCAM | Zornitza Stark Gene: dscam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14753 | DSCAM | Zornitza Stark Phenotypes for gene: DSCAM were changed from to Autism MONDO:0005260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14752 | DSCAM | Zornitza Stark Publications for gene: DSCAM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14751 | DSCAM | Zornitza Stark Classified gene: DSCAM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14751 | DSCAM | Zornitza Stark Gene: dscam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14750 | DSCAM | Zornitza Stark Mode of inheritance for gene: DSCAM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14749 | DSCAM | Zornitza Stark Classified gene: DSCAM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14749 | DSCAM | Zornitza Stark Gene: dscam has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14291 | DSCAM | Krithika Murali Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14291 | DSCAM |
Krithika Murali edited their review of gene: DSCAM: Added comment: No OMIM gene disease association. Variants predominantly identified from large cohort studies with limited phenotypic information. Associations with ID, ASD, Hirschsprung disease reported. One homozygous splice site variant reported with no parental phenotypes provided. PMID 34253863 Lim et al 2021 - 12 yo proband with severe autism spectrum disorder diagnosed age 3, de novo heterozygous c.2051 del p.(L684X) variant identified (absent from gnomAD). Skin fibroblast human iPSC cells generated from proband and healthy controls. Forebrain-like induced neuronal cells showed reduced mRNA expression for NMDA-R subunits. PMID 28600779 Monies et al 2017 - Homozygous splice site variant identified in proband from consanguineous Saudi family. Proband had growth restriction, microcephaly, developmental delay. Parental phenotype not provided. PMID 30095639 and PMID 23671607 - report association between DSCAM polymorphisms and Hirschsprung disease in Chinese and European populations. PMID 27824329 Wang et al 2016 - 2 denovo mutations in mixed ID/ASD cohort of 1,045; including comparison of previously published cases 6 LOF out of 4,998 cases. PMID 28191889 2 denovo LOF in 13,407 mixed ID/ASD cases plus 4 previosly published cases our ot 6158; conclude denovo LOF enriched in cases vs controls PMID 21904980; mouse model – het LOF mice show hydrocephalus, decreased motor function and impaired motor learning ability, Evidence for missense lacking currently; Changed publications: 34253863, 32807774, 28600779, 21904980, 28191889, 27824329, 30095639, 23671607 |
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| Mendeliome v0.14291 | DSCAM | Krithika Murali reviewed gene: DSCAM: Rating: AMBER; Mode of pathogenicity: None; Publications: 34253863, 32807774, 28600779; Phenotypes: Autism, ID; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | DSCAM |
Zornitza Stark gene: DSCAM was added gene: DSCAM was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DSCAM was set to Unknown |
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