Activity
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| Intellectual disability v6.32 | YWHAE |
Achchuthan Shanmugasundram changed review comment from: PMID:36999555 reported three individuals with sequence variants in YWHAE gene and six individuals with deletion variants (1 intragenic deletion and 5 large deletions encompassing YWHEA but not PAFAH1B1). In addition, five patients were previously reported with deletion variants. Only one of the three individuals with sequence variants had mild intellectual disability, while five of 12 patients with deletion variants had mild to severe intellectual disability. Sources: Literature; to: PMID:36999555 reported three individuals with sequence variants in YWHAE gene and six individuals with deletion variants (1 intragenic deletion and 5 large deletions encompassing YWHEA but not PAFAH1B1). In addition, five patients were previously reported with deletion variants. Only one of three individuals with sequence variants had mild intellectual disability, while five of 12 patients with deletion variants had mild to severe intellectual disability. Sources: Literature |
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| Intellectual disability v6.32 | YWHAE |
Achchuthan Shanmugasundram gene: YWHAE was added gene: YWHAE was added to Intellectual disability. Sources: Literature cnv tags were added to gene: YWHAE. Mode of inheritance for gene: YWHAE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: YWHAE were set to 36999555 Phenotypes for gene: YWHAE were set to neurodevelopmental disorder, MONDO:0700092 Review for gene: YWHAE was set to RED Added comment: PMID:36999555 reported three individuals with sequence variants in YWHAE gene and six individuals with deletion variants (1 intragenic deletion and 5 large deletions encompassing YWHEA but not PAFAH1B1). In addition, five patients were previously reported with deletion variants. Only one of the three individuals with sequence variants had mild intellectual disability, while five of 12 patients with deletion variants had mild to severe intellectual disability. Sources: Literature |
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| Intellectual disability v4.26 | PAFAH1B1 | Arina Puzriakova Phenotypes for gene: PAFAH1B1 were changed from PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia; LISSENCEPHALY TYPE 1 (LIS1) to Lissencephaly 1, OMIM:607432; Subcortical laminar heterotopia, OMIM:607432 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.468 | PAFAH1B1 | Louise Daugherty Source Victorian Clinical Genetics Services was added to PAFAH1B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | PAFAH1B1 | BRIDGE consortium edited their review of PAFAH1B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | PAFAH1B1 | BRIDGE consortium edited their review of PAFAH1B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | PAFAH1B1 | BRIDGE consortium reviewed PAFAH1B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||