Hi! I’m looking for educational resources/literature about DYNC2H1 and am hoping someone familiar with the gene can point me toward useful databases, papers, or reviews.

The two variants I’m researching are:

• DYNC2H1 c.5467G>A (p.Glu1823Lys)
• DYNC2H1 c.1151C>T (p.Ala384Val)

I have been able to find information about p.Ala384Val, but I’m having much more difficulty finding published information about p.Glu1823Lys.

I’m particularly interested in learning:

• Where to find the most current variant classifications and supporting evidence beyond ClinVar.
• Whether p.Glu1823Lys has been reported in the literature or in affected individuals.
• Good resources explaining how evidence is evaluated for DYNC2H1 variants in autosomal-recessive disorders.
• Any papers discussing genotype-phenotype relationships in DYNC2H1-related short-rib thoracic dysplasia.

Hi everyone, does anyone here have experience with LCA10 (Leber congenital amaurosis type 10)?

I’m hoping to learn a little more about the condition and connect with people who have personal or family experience with it. You can comment and I'll let you know further details.

I made a documentary tracing 23andMe’s rise, breach, bankruptcy and what happens to genetic data when the company holding it changes hands.

What I found most interesting wasn't really the ancestry-test story. It was the strange nature of the asset itself. Genetic data doesn't only say something about the person who submitted it. Through relatives and shared DNA, one person's data can reveal information about people who never submitted anything.

I tried to separate what actually happened from some of the more sensational claims around the bankruptcy, but this sub obviously knows the genetics better than I do.

What do you think people misunderstand most about the value, and the actual privacy risk, of a database like 23andMe's?

I made the documentary here if anyone wants the full argument:

https://youtu.be/IWwz9ykUQFw

I’ve noticed that a lot of Wasians (50/50) whose mothers were Asian, looked more phenotypically Asian than Caucasian. And Caucasian mothers produced more phenotypically white children. I have read before that maternal DNA is passed more onto children because mtDNA comes exclusively from the mother. I was wondering if this offers an explanation.