Activity
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| Intellectual disability v9.303 | WBP4 |
Arina Puzriakova Tag Q4_24_NHS_review was removed from gene: WBP4. Tag Q4_24_promote_green was removed from gene: WBP4. |
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| Intellectual disability v9.299 | WBP4 | Arina Puzriakova reviewed gene: WBP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.298 | WBP4 |
Arina Puzriakova Source NHS GMS was added to WBP4. Source Expert Review Green was added to WBP4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v8.43 | WBP4 |
Achchuthan Shanmugasundram Tag Q4_22_promote_green was removed from gene: WBP4. Tag Q4_24_promote_green tag was added to gene: WBP4. |
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| Intellectual disability v8.43 | WBP4 | Sarah Leigh Publications for gene: WBP4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.42 | WBP4 | Sarah Leigh Classified gene: WBP4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.42 | WBP4 | Sarah Leigh Gene: wbp4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.41 | WBP4 |
Sarah Leigh gene: WBP4 was added gene: WBP4 was added to Intellectual disability. Sources: Literature Q4_24_NHS_review, Q4_22_promote_green tags were added to gene: WBP4. Mode of inheritance for gene: WBP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WBP4 were set to Neurodevelopemental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities, OMIM:620852; neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities, MONDO:0971043 Review for gene: WBP4 was set to GREEN Added comment: WBP4 variants have been associated with Neurodevelopemental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities (OMIM:620852). PMID: 37963460 reports four apparently loss of function WBP4 variants in four unrelated cases. Sources: Literature |
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