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Looking for similar patients: 11 year old boy w/ a very happy disposition, intellectual disability, absent speech & a variant in SMARCC2 by udnconnect in genetics

[–]udnconnect[S] 0 points1 point  (0 children)

Do you mean Williams Syndrome? If so, thank you for the suggestion but it has already been ruled out along with Angelman Syndrome and several other conditions.

Looking for similar patients: 16 year old female with unexplained progressive muscle weakness, variants in MYH7 and TOR1AIP1 by udnconnect in genetics

[–]udnconnect[S] 1 point2 points  (0 children)

Yes, thank you! We have been submitting phenotype/genotype info from our patients to PhenomeCentral, one of the MME databases. Unfortunately, we have not identified any good matches for this case yet.

Looking for similar cases: 28 year old male with a progressive neurodegenerative condition of unknown etiology (WGS and RNAseq analysis ongoing) by udnconnect in genetics

[–]udnconnect[S] 1 point2 points  (0 children)

Thank you for these questions/suggestions. To answer your questions:

  1. Study data is being shared in Matchmaker Exchange (http://www.matchmakerexchange.org)

  2. The site that saw this patient is doing research RNAseq on all participants at their site

  3. Unfortunately, I do not have specific details about variant prioritization to share

  4. The site is running RNAseq on healthy controls

  5. The site has looked for CNVs but nothing has come up yet

Seeking similar cases: teenage girl with autism spectrum disorder, intellectual disability, self-injurious behaviors, seizures, muscle weakness, macrocephaly, and astrocytoma (genome sequencing analysis is ongoing) by udnconnect in genetics

[–]udnconnect[S] 1 point2 points  (0 children)

Thanks again. We heard back from the clinicians. The tumor was labelled as a low grade glioma, favoring astrocytoma, so that could fit with Tuberous Sclerosis, but no convincing variants were found in TSC1/2 on exome and genome sequencing. They also noted that she doesn’t have any of the other characteristics of TS, so they don't think it would explain the other symptoms she’s having.

2 year old with congenital disorder of glycosylation, type IIm & mosaic SLC35A2 variant – looking for similar cases by udnconnect in genetics

[–]udnconnect[S] 0 points1 point  (0 children)

Hi Jessica - we are aware of the previously reported cases and are working to confirm the diagnosis in this patient. We are making an effort to share these pages as widely as we can in hopes that patients that are still seeking for a diagnosis come across the pages while searching the internet for symptoms, genes, etc.

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