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| Congenital disorders of glycosylation v2.73 | SSR3 | Arina Puzriakova Classified gene: SSR3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v2.73 | SSR3 | Arina Puzriakova Gene: ssr3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.72 | SSR3 | Arina Puzriakova Phenotypes for gene: SSR3 were changed from Congenital disorder of glycosylation, type Iu, MIM#615042 to Congenital disorder of glycosylation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.18 | SSR3 |
Zornitza Stark gene: SSR3 was added gene: SSR3 was added to Congenital disorders of glycosylation. Sources: Literature Mode of inheritance for gene: SSR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SSR3 were set to 30945312 Phenotypes for gene: SSR3 were set to Congenital disorder of glycosylation, type Iu, MIM#615042 Review for gene: SSR3 was set to AMBER Added comment: Single individual reported with an unsolved type I CDG, intellectual disability, homozygous LOF variant in SSR3, supportive functional evidence. Sources: Literature |
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