lschriml
commented
2 years ago Thank you for the term request. We will review and get this added. Cheers, Lynn
On Aug 2, 2022, at 5:13 PM, vjenkins @.***> wrote:
I'd like to request a term for DeSanto-Shinawi syndrome:
OMIM: https://omim.org/entry/616708
Potential definition: DeSanto-Shinawi syndrome is a neurodevelopmental disorder [could put more detail here] that has_material_basis_in heterozygous mutation of the WAC gene on chromosome 10p11.
Potential parent term: autosomal dominant disease
Synonyms: DESSH, WAC syndrome, Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation, WAC-Related Intellectual Disability
Two MedGen pages: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation(DESSH) linked to the original paper & the OMIM. ClinVar largely links pathogenic alleles of WAC to this disease. WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome linked to a different presentation of the disease, same gene of interest, found by PMID 34997803 which emphasizes cardiac defects not found by the original paper.
GeneReviews page: WAC-Related Intellectual Disability HGNC entry for gene WAC
Citations other than those in the OMIM entry: PMID 34997803 - Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome PMID 35266333 - Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC PMID 33123400 - A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation PMID 29928181 - DeSanto-Shinawi Syndrome: First Case in South America
Other links: The DESSH Foundation HGNC entry for gene WAC
There are two papers modeling this disease in Drosophila that we at FlyBase would like to curate using this term.
My contact info: @.*** (FlyBase), 0000-0002-1567-7626. I'm happy to write a more detailed definition for this disease if that would help, but I don't want to overstep either. This is one of several diseases on FlyBase's internal "list of diseases we would curate using more specific DO terms if we could", so please tell me if I'm doing part of this term request wrong so that I can make the next one better. Thank you!
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vjenkinsFB
I'd like to request a term for DeSanto-Shinawi syndrome:
OMIM: https://omim.org/entry/616708
Potential definition: DeSanto-Shinawi syndrome is a neurodevelopmental disorder [could put more detail here] that has_material_basis_in heterozygous mutation of the WAC gene on chromosome 10p11.
Potential parent term: autosomal dominant disease
Synonyms: DESSH, WAC syndrome, Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation, WAC-Related Intellectual Disability
Two MedGen pages: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation(DESSH) linked to the original paper & the OMIM. ClinVar largely links pathogenic alleles of WAC to this disease. WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome linked to a different presentation of the disease, same gene of interest, found by PMID 34997803 which emphasizes cardiac defects not found by the original paper.
GeneReviews page: WAC-Related Intellectual Disability HGNC entry for gene WAC
Citations other than those in the OMIM entry: PMID 34997803 - Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome PMID 35266333 - Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC PMID 33123400 - A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation PMID 29928181 - DeSanto-Shinawi Syndrome: First Case in South America
Other links: The DESSH Foundation HGNC entry for gene WAC
There are two papers modeling this disease in Drosophila that we at FlyBase would like to curate using this term.
My contact info: vjenkins@morgan.harvard.edu (FlyBase), 0000-0002-1567-7626. I'm happy to write a more detailed definition for this disease if that would help, but I don't want to overstep either. This is one of several diseases on FlyBase's internal "list of diseases we would curate using more specific DO terms if we could", so please tell me if I'm doing part of this term request wrong so that I can make the next one better. Thank you!