Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Hydrops fetalis v0.164 | ARSA | Zornitza Stark Marked gene: ARSA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrops fetalis v0.164 | ARSA | Zornitza Stark Gene: arsa has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrops fetalis v0.164 | ARSA |
Zornitza Stark gene: ARSA was added gene: ARSA was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy, MIM# 250100 Review for gene: ARSA was set to RED Added comment: MLD is a lysosomal disorder and several lysosomal disorders can present with hydrops. However symptom onset for MLD is typically 6-12 months, and I cannot find reports of hydrops associated with variants in ARSA. Sources: Expert list |