| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Disorders of Glycosylation v0.110 | SLC26A2 | Zornitza Stark Marked gene: SLC26A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.110 | SLC26A2 | Zornitza Stark Gene: slc26a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.110 | SLC26A2 | Zornitza Stark Phenotypes for gene: SLC26A2 were changed from to Skeletal dysplasia (various) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.109 | SLC26A2 | Zornitza Stark Publications for gene: SLC26A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.108 | SLC26A2 | Zornitza Stark Mode of inheritance for gene: SLC26A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.107 | SLC26A2 | Zornitza Stark Classified gene: SLC26A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.107 | SLC26A2 | Zornitza Stark Gene: slc26a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.96 | SLC26A2 |
Paul De Fazio changed review comment from: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a role in glycosylation. SLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter. From GeneReviews: "Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation...All of these disorders result from different mutations in the DTD gene (SLC26A2), which encodes a plasma membrane sulfate transporter...the heavy demand for sulfate in bone and cartilage proteoglycan synthesis probably explains why the symptoms are most evident in these locations." (https://www.ncbi.nlm.nih.gov/books/NBK453041/) SLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index; to: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a direct role in glycosylation. SLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter. From GeneReviews: "Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation...All of these disorders result from different mutations in the DTD gene (SLC26A2), which encodes a plasma membrane sulfate transporter...the heavy demand for sulfate in bone and cartilage proteoglycan synthesis probably explains why the symptoms are most evident in these locations." (https://www.ncbi.nlm.nih.gov/books/NBK453041/) SLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index |
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| Congenital Disorders of Glycosylation v0.96 | SLC26A2 |
Paul De Fazio changed review comment from: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a role in glycosylation. SLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter. From GeneReviews: "Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation." (https://www.ncbi.nlm.nih.gov/books/NBK1939/) SLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index; to: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a role in glycosylation. SLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter. From GeneReviews: "Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation...All of these disorders result from different mutations in the DTD gene (SLC26A2), which encodes a plasma membrane sulfate transporter...the heavy demand for sulfate in bone and cartilage proteoglycan synthesis probably explains why the symptoms are most evident in these locations." (https://www.ncbi.nlm.nih.gov/books/NBK453041/) SLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index |
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| Congenital Disorders of Glycosylation v0.96 | SLC26A2 |
Paul De Fazio changed review comment from: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a role in glycosylation. SLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter. From GeneReviews: "Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation."(https://www.ncbi.nlm.nih.gov/books/NBK1939/) SLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index; to: Gene-disease association is well-established (OMIM, PMID:11241838) but I can find no evidence that it plays a role in glycosylation. SLC26A2 encodes a membrane glycoprotein which functions as a sulfate transporter. From GeneReviews: "Three autosomal recessive disorders, diastrophic dystrophy (DTD), atelosteogenesis type II (AOII), and achondrogenesis type IB (ACG-IB), all result from defective cartilage proteoglycan sulfation." (https://www.ncbi.nlm.nih.gov/books/NBK1939/) SLC26A2 is on the Invitae and Mayo Clinic CDG panels. It is listed as a CDG gene on https://glycosmos.org/gdgdbs/index |
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| Congenital Disorders of Glycosylation v0.96 | SLC26A2 | Paul De Fazio reviewed gene: SLC26A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 11241838; Phenotypes: Skeletal dysplasia (various); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.0 | SLC26A2 |
Zornitza Stark gene: SLC26A2 was added gene: SLC26A2 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC26A2 was set to Unknown |
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