Activity
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10 actions
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| Intellectual disability v8.97 | SLC4A10 | Sarah Leigh Tag Q3_24_promote_green was removed from gene: SLC4A10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | SLC4A10 | Sarah Leigh reviewed gene: SLC4A10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | SLC4A10 |
Sarah Leigh Source NHS GMS was added to SLC4A10. Source Expert Review Green was added to SLC4A10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v8.25 | SLC4A10 | Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: SLC4A10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.25 | SLC4A10 | Arina Puzriakova Publications for gene: SLC4A10 were set to 37459438; 38054405 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.24 | SLC4A10 | Arina Puzriakova Classified gene: SLC4A10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.24 | SLC4A10 |
Arina Puzriakova Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM (MIM# 620746). Over 10 unrelated cases reported in literature with biallelic variants in this gene, presenting with a neurodevelopmental disorder characterised by hypotonia, delayed psychomotor development and intellectual impairment. Microcephaly (<−3 SDS) and epilepsy are also variably observed but there are sufficient to rate as green in the context of these features. Overall sufficient evidence to promote this gene to Green at the next GMS panel update. |
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| Intellectual disability v8.24 | SLC4A10 | Arina Puzriakova Gene: slc4a10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.23 | SLC4A10 | Arina Puzriakova Phenotypes for gene: SLC4A10 were changed from to Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.13 | SLC4A10 |
Cassandra Smith gene: SLC4A10 was added gene: SLC4A10 was added to Intellectual disability. Sources: Other Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A10 were set to 37459438; 38054405 Review for gene: SLC4A10 was set to GREEN Added comment: More than 10 families with biallelic variants reported in SLC4A10, causing a neurodevelopmental disorder including intellectual disability. Sources: Other |
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