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Congenital disorders of glycosylation v2.73 | SSR3 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. SSR3 is currently not associated with any phenotype in OMIM or G2P. Only a single case reported to date (PMID: 30945312); however, supported by functional data. Variants in other TRAP complex subunits (e.g. SSR4) have been shown to cause a CDG. Rating Amber, awaiting further cases prior to inclusion as diagnostic-grade. |
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Congenital disorders of glycosylation v2.66 | SSR4 | Sarah Leigh commented on gene: SSR4: GlyGen link updated April 2021: https://www.glygen.org/protein/P51571-1#Disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v1.21 | SSR4 | Rebecca Foulger Phenotypes for gene: SSR4 were changed from ?Congenital disorder of glycosylation, type Iy 300934 to Congenital disorder of glycosylation, type Iy 300934 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation | SSR4 | Sarah Leigh marked SSR4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation | SSR4 | Sarah Leigh commented on SSR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation | SSR4 | Sarah Leigh classified SSR4 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation | SSR4 | Daniel Ungar reviewed SSR4 |