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| Prepair 1000+ v1.673 | SLC26A2 | Lilian Downie Marked gene: SLC26A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.673 | SLC26A2 | Lilian Downie Added comment: Comment when marking as ready: ClinGen has curated this gene for 4 split disease entities (see Mondo terms) when curating consider genotype-phenotype | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.673 | SLC26A2 | Lilian Downie Gene: slc26a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.669 | SLC26A2 | Lilian Downie Added comment: Comment on phenotypes: ClinGen has split this gene for 4 disease entities as per the Mondo terms. Curation of variants will need to consider the spectrum. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.669 | SLC26A2 | Lilian Downie Phenotypes for gene: SLC26A2 were changed from Achondrogenesis Ib, 600972 (3) to diastrophic dysplasia MONDO:0009107; multiple epiphyseal dysplasia MONDO:0016648; atelosteogenesis type II MONDO:0009727; achondrogenesis type IB MONDO:0010966 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.665 | SLC26A2 | Lilian Downie Publications for gene: SLC26A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.633 | SLC26A2 |
Andrew Coventry changed review comment from: Well established gene disease association causing skeletal abnormalities of varying severity. Variants in this gene have been shown to cause achondrogenesis type 1B, atelosteogenesis type 2, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia, which comprise a spectrum of phenotypes (depending on level of residual sulfate transport). Onset/features can often be observed neonatally. Mouse models present for some phenotypes, and functional studies are present. Homozygosity or compound heterozygosity for stop codons or transmembrane domain substitutions mostly result in achondrogenesis type IB, whereas other structural or regulatory mutations usually result in one of the less severe phenotypes (PMID: 8723100) Unsure of phenotypes to list under condition. Clingen includes curations for: diastrophic dysplasia MONDO:0009107 multiple epiphyseal dysplasia MONDO:0016648 atelosteogenesis type II MONDO:0009727 achondrogenesis type IB MONDO:0010966 OMIM phenotypes (6) listed above.; to: Well established gene disease association causing skeletal abnormalities of varying severity. Variants in this gene have been shown to cause achondrogenesis type 1B, atelosteogenesis type 2, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia, which comprise a spectrum of phenotypes (depending on level of residual sulfate transport). Onset/features can often be observed neonatally. Mouse models present for some phenotypes, and functional studies are present. Homozygosity or compound heterozygosity for stop codons or transmembrane domain substitutions mostly result in achondrogenesis type IB, whereas other structural or regulatory variants usually result in one of the less severe phenotypes (PMID: 8723100) Unsure of phenotypes to list under condition. Clingen includes curations for: diastrophic dysplasia MONDO:0009107 multiple epiphyseal dysplasia MONDO:0016648 atelosteogenesis type II MONDO:0009727 achondrogenesis type IB MONDO:0010966 OMIM phenotypes (6) listed above. |
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| Prepair 1000+ v1.633 | SLC26A2 |
Andrew Coventry changed review comment from: Well established gene disease association causing skeletal abnormalities of varying severity. Variants in this gene have been shown to cause achondrogenesis type 1B, atelosteogenesis type 2, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia, which comprise a spectrum of phenotypes (depending on level of residual sulfate transport). Onset can be neonatal. Mouse models present for some phenotypes, and functional studies are present. Homozygosity or compound heterozygosity for stop codons or transmembrane domain substitutions mostly result in achondrogenesis type IB, whereas other structural or regulatory mutations usually result in one of the less severe phenotypes (PMID: 8723100) Unsure of phenotypes to list under condition. Clingen includes curations for: diastrophic dysplasia MONDO:0009107 multiple epiphyseal dysplasia MONDO:0016648 atelosteogenesis type II MONDO:0009727 achondrogenesis type IB MONDO:0010966 OMIM phenotypes (6) listed above.; to: Well established gene disease association causing skeletal abnormalities of varying severity. Variants in this gene have been shown to cause achondrogenesis type 1B, atelosteogenesis type 2, diastrophic dysplasia, and recessive multiple epiphyseal dysplasia, which comprise a spectrum of phenotypes (depending on level of residual sulfate transport). Onset/features can often be observed neonatally. Mouse models present for some phenotypes, and functional studies are present. Homozygosity or compound heterozygosity for stop codons or transmembrane domain substitutions mostly result in achondrogenesis type IB, whereas other structural or regulatory mutations usually result in one of the less severe phenotypes (PMID: 8723100) Unsure of phenotypes to list under condition. Clingen includes curations for: diastrophic dysplasia MONDO:0009107 multiple epiphyseal dysplasia MONDO:0016648 atelosteogenesis type II MONDO:0009727 achondrogenesis type IB MONDO:0010966 OMIM phenotypes (6) listed above. |
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| Prepair 1000+ v1.633 | SLC26A2 | Andrew Coventry reviewed gene: SLC26A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301483, 20301689, 11241838, 8723100; Phenotypes: Achondrogenesis Ib MIM#600972, Atelosteogenesis, type II MIM#256050, De la Chapelle dysplasia MIM#256050, Diastrophic dysplasia MIM#222600, Diastrophic dysplasia, broad bone-platyspondylic variant MIM#222600, Epiphyseal dysplasia, multiple, 4 MIM#226900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | SLC26A2 | Seb Lunke Added phenotypes Achondrogenesis Ib, 600972 (3) for gene: SLC26A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | SLC26A2 |
Zornitza Stark gene: SLC26A2 was added gene: SLC26A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC26A2 were set to Achondrogenesis Ib, 600972 (3) |
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