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| Ataxia and cerebellar anomalies - narrow panel v3.30 | SLC17A5 | Eleanor Williams Tag Q2_21_rating was removed from gene: SLC17A5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.30 | SLC17A5 | Eleanor Williams reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.29 | SLC17A5 |
Eleanor Williams Source Expert Review Green was added to SLC17A5. Source NHS GMS was added to SLC17A5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ataxia and cerebellar anomalies - narrow panel v2.207 | SLC17A5 | Arina Puzriakova Tag Q2_21_rating tag was added to gene: SLC17A5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.207 | SLC17A5 | Arina Puzriakova Publications for gene: SLC17A5 were set to 26171070 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.206 | SLC17A5 | Arina Puzriakova Phenotypes for gene: SLC17A5 were changed from Sialic acid storage disorder, infantile, MIM# 269920 to Salla disease, OMIM:604369; Sialic acid storage disorder, infantile, OMIM:269920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.205 | SLC17A5 | Arina Puzriakova Classified gene: SLC17A5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.205 | SLC17A5 |
Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Zornitza Stark (Australian Genomics). There is enough evidence to promote this gene to Green at the next GMS panel update. Associated with relevant phenotypes in OMIM and has a 'confirmed' disease confidence rating in G2P. At least 6 variants reported in at least 6 cases of Sialic acid storage disorder, infantile (MIM# 269920) and at least 2 variants reported in at least 5 cases of Salla disease (MIM# 604369). Cerebellar ataxia is a main presenting feature of this disorder, typically arising within the first year of life. |
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| Ataxia and cerebellar anomalies - narrow panel v2.205 | SLC17A5 | Arina Puzriakova Gene: slc17a5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.12 | SLC17A5 |
Zornitza Stark gene: SLC17A5 was added gene: SLC17A5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC17A5 were set to 26171070 Phenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile, MIM# 269920 Review for gene: SLC17A5 was set to GREEN gene: SLC17A5 was marked as current diagnostic Added comment: Ataxia is prominent in childhood. Sources: Expert list |
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