| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Undiagnosed metabolic disorders v1.538 | SLC37A4 | Arina Puzriakova Phenotypes for gene: SLC37A4 were changed from Glycogen storage disease type 1b, von Gierke (Glycogen storage disorders); heptomgaly, feed intolerance , inflammatory bowel disease, neutropenia; Glycogen storage disease Ib, 232220; Glycogen storage disease Ic, 232240; Glycogen Storage Disease Type I; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen Storage Disease Ib and Ic to Glycogen storage disease Ib, OMIM:232220; Glycogen storage disease Ic, OMIM:232240; Congenital disorder of glycosylation, type IIw, OMIM:619525 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.537 | SLC37A4 |
Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from 'biallelic' to 'both mono- and biallelic' to the next GMS panel update. Biallelic LOF variants in this gene cause glycogen storage disorder while monoallelic variants in SLC37A4 are linked to a congenital disorder of glycosylation in OMIM (MIM# 619525) and G2P (definitive disease confidence). Therefore both inheritance patterns are relevant to this panel. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Undiagnosed metabolic disorders v1.537 | SLC37A4 | Arina Puzriakova Mode of inheritance for gene: SLC37A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||