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| Renal tubulopathies v2.25 | SLC5A2 | Eleanor Williams Tag for-review was removed from gene: SLC5A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.25 | SLC5A2 | Eleanor Williams Classified gene: SLC5A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.25 | SLC5A2 | Eleanor Williams Added comment: Comment on list classification: Reverting this gene to green. It was green at the initial sign off (v2.3 in Feb 2020) and was reverted to amber in error in October 2020 before re-sign off. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.25 | SLC5A2 | Eleanor Williams Gene: slc5a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.21 | SLC5A2 | Ivone Leong Tag for-review tag was added to gene: SLC5A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.18 | SLC5A2 | Catherine Snow Classified gene: SLC5A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.18 | SLC5A2 | Catherine Snow Added comment: Comment on list classification: Changed rating to Amber to reflect NHS signed-off rating, will be examined at next panel review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.18 | SLC5A2 | Catherine Snow Gene: slc5a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.172 | SLC5A2 | Eleanor Williams Classified gene: SLC5A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.172 | SLC5A2 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as >3 cases reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.172 | SLC5A2 | Eleanor Williams Gene: slc5a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.171 | SLC5A2 | Eleanor Williams Publications for gene: SLC5A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.170 | SLC5A2 | Eleanor Williams Mode of inheritance for gene: SLC5A2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.82 | SLC5A2 |
Eleanor Williams commented on gene: SLC5A2: Associated with Renal glucosuria #233100 (both AD and AR) in OMIM. PubMed: 12436245 - van den Heuvel et al. (2002) - 1 case. Turkish patient with congenital isolated renal glucosuria and a homozygous nonsense mutation in exon 11 leading to the formation of a truncated cotransporter. Both parents and a younger brother, all 3 without renal glucosuria, were heterozygous for the mutation. PubMed: 21165652 - Yu et al. 2011 - screened the SGLT2 (now known as SLC5A2) gene in 4 patients in 4 unrelated Chinese families had persistent glucosuria with no polyuria/polydipsia, and no history of other renal diseases. They identified 5 novel mutations in the probands, including three missense mutations and two splice mutations. All four probands were heterozygous or compound heterozygous for SGLT2 mutations and none of the five identified mutations was detected in 110 chromosomes derived from 55 healthy, unrelated individuals, indicating that these mutations do not represent common polymorphisms. Compound heterozygous patients had more significant glucosuria. Functional studies also carried out. PubMed: 26376857- Dhayat et al 2016 - report a Swiss family with SLC16A12-associated cataract and microcornea, in which 5 affected individuals also exhibited renal leak glucosuria, They identified an additional heterozygous missense mutation in the SLC5A2 gene that segregated fully with renal leak glucosuria in the family. |
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| Renal tubulopathies v1.65 | SLC5A2 | Eleanor Williams Phenotypes for gene: SLC5A2 were changed from to Renal glucosuria, 233100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.16 | SLC5A2 | Eleanor Williams reviewed gene: SLC5A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Renal glucosuria, MIM 233100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.15 | SLC5A2 |
Eleanor Williams gene: SLC5A2 was added gene: SLC5A2 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: SLC5A2 was set to |
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