Activity
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8 actions
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| Intellectual disability v3.1519 | ANKRD17 | Ivone Leong Tag Q2_21_rating was removed from gene: ANKRD17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1519 | ANKRD17 | Sarah Leigh commented on gene: ANKRD17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1519 | ANKRD17 |
Ivone Leong Source Expert Review Green was added to ANKRD17. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v3.1118 | ANKRD17 | Arina Puzriakova Classified gene: ANKRD17 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1118 | ANKRD17 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. There is sufficient evidence to rate this gene Green at the next GMS panel update. Chopra et al. 2021 (PMID: 33909992) report 34 individuals from 32 families with a heterozygous variant or microdeletion of ANKRD17. GDD/ID was the most common feature, affecting 31/33 individuals with variable severity - 7 severe, 12 moderate, 5 mild, 7 borderline. Deletions of the region containing ANKRD17 have also been associated with ID. |
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| Intellectual disability v3.1118 | ANKRD17 | Arina Puzriakova Gene: ankrd17 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1117 | ANKRD17 | Arina Puzriakova Tag Q2_21_rating tag was added to gene: ANKRD17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1069 | ANKRD17 |
Zornitza Stark gene: ANKRD17 was added gene: ANKRD17 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANKRD17 were set to 33909992 Phenotypes for gene: ANKRD17 were set to Intellectual disability, speech delay, and dysmorphism Review for gene: ANKRD17 was set to GREEN gene: ANKRD17 was marked as current diagnostic Added comment: 34 predominantly LoF variants reported - 29 de novo, 1 inherited from an affected parent, 1 inherited from a suspected mosaic parent. Main phenotypes were dev delay/ID, motor delay, and speech delay. Sources: Literature |
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