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Autism

Gene: DSCAM

Green List (high evidence)
DSCAM (DS cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000171587
EnsemblGeneIds (GRCh37): ENSG00000171587
OMIM: 602523, Gene2Phenotype
DSCAM is in 4 panels

1 review

Natasha Brown (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 27824329 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
Created: 17 Dec 2019, 11:10 p.m. | Last Modified: 17 Dec 2019, 11:10 p.m.
Panel Version: 0.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autism

Publications

Created: 17 Dec 2019, 11:10 p.m.
Last Modified: 17 Dec 2019, 11:10 p.m.
Panel version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Autism
OMIM
602523
Clinvar variants
Variants in DSCAM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Natasha Brown (Victorian Clinical Genetics Services)

Gene: dscam has been classified as Green List (High Evidence).

17 Dec 2019, Gel status: 3

Set Phenotypes

Natasha Brown (Victorian Clinical Genetics Services)

Phenotypes for gene: DSCAM were changed from to Autism

17 Dec 2019, Gel status: 3

Set publications

Natasha Brown (Victorian Clinical Genetics Services)

Publications for gene: DSCAM were set to

17 Dec 2019, Gel status: 3

Set mode of inheritance

Natasha Brown (Victorian Clinical Genetics Services)

Mode of inheritance for gene: DSCAM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DSCAM was added gene: DSCAM was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DSCAM was set to Unknown