| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Prepair 1000+ v0.89 | HYAL1 | Zornitza Stark Marked gene: HYAL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.89 | HYAL1 | Zornitza Stark Gene: hyal1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.89 | HYAL1 | Zornitza Stark Classified gene: HYAL1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.89 | HYAL1 | Zornitza Stark Gene: hyal1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.61 | HYAL1 |
Crystle Lee gene: HYAL1 was added gene: HYAL1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYAL1 were set to 10339581; 18344557; 21559944 Phenotypes for gene: HYAL1 were set to Mucopolysaccharidosis type IX (MIM#601492) Review for gene: HYAL1 was set to RED Added comment: Two families reported: in one, multiple soft tissue masses were the predominant clinical manifestation, and in the second, juvenile arthritis. Mouse model. >15 pLoF variants reported as pathogenic in ClinVar. All submitted by a single lab and evidence suggests that the variant has not been previously reported. Insufficient gene disease association. Not suitable for inclusion in a carrier screening panel Sources: Literature |
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