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| Intellectual disability v10.67 | PDS5A |
Achchuthan Shanmugasundram changed review comment from: PMID:30158690 (2019) reoported a cohort that had undergone exome sequencing of which one patient with intellectual disability/ developmental delay was identified with a paternally inherited PDS5A variant (p.Glu759Ter) and a de novo ASXL3 variant. PMID:42431198 (2026) reported the identification of heterozygous PDS5A variants in eight unrelated individuals and the inheritance was de novo in four, maternal in one and unknown in three. Patients with variants in PDS5A presented with considerable morbidity, and every patient had neurodevelopmental (e.g., developmental delay, intellectual disability) and/or other neurological features (e.g., epilepsy, hypotonia, abnormal brain imaging). However, these features were variable and less convincing as unified syndromic presentations. Severe intellectual disability was reported in two patients and global developmental delay was reported in two other patients. This gene has not yet been associated with relevant phenotypes in OMIM, Gene2Phenotype or ClinGen, but associated with amber rating on the intellectual disability panel of PanelApp Australia. Sources: Literature; to: PMID:30158690 (2019) reoported a cohort that had undergone exome sequencing of which one patient with intellectual disability/ developmental delay was identified with a paternally inherited PDS5A variant (p.Glu759Ter) and a de novo ASXL3 variant. PMID:42431198 (2026) reported the identification of heterozygous PDS5A variants in eight unrelated individuals and the inheritance was de novo in four, maternal in one and unknown in three. Patients with variants in PDS5A presented with considerable morbidity, and every patient had neurodevelopmental (e.g., developmental delay, intellectual disability) and/or other neurological features (e.g., epilepsy, hypotonia, abnormal brain imaging). However, these features were variable and less convincing as unified syndromic presentations. Severe intellectual disability was reported in two patients and global developmental delay was reported in two other patients. No functional evidence available. This gene has not yet been associated with relevant phenotypes in OMIM, Gene2Phenotype or ClinGen, but associated with amber rating on the intellectual disability panel of PanelApp Australia. Sources: Literature |
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| Intellectual disability v10.66 | PDS5A |
Achchuthan Shanmugasundram changed review comment from: PMID:42431198 (2026) reported the identification of heterozygous PDS5A variants in eight unrelated individuals and the inheritance was de novo in four, maternal in one and unknown in three. Patients with variants in PDS5A presented with considerable morbidity, and every patient had neurodevelopmental (e.g., developmental delay, intellectual disability) and/or other neurological features (e.g., epilepsy, hypotonia, abnormal brain imaging). However, these features were variable and less convincing as unified syndromic presentations. Severe intellectual disability was reported in two patients and global developmental delay was reported in two other patients. This gene has not yet been associated with relevant phenotypes in OMIM, Gene2Phenotype or ClinGen, but associated with amber rating on the intellectual disability panel of PanelApp Australia. Sources: Literature; to: PMID:30158690 (2019) reoported a cohort that had undergone exome sequencing of which one patient with intellectual disability/ developmental delay was identified with a paternally inherited PDS5A variant (p.Glu759Ter) and a de novo ASXL3 variant. PMID:42431198 (2026) reported the identification of heterozygous PDS5A variants in eight unrelated individuals and the inheritance was de novo in four, maternal in one and unknown in three. Patients with variants in PDS5A presented with considerable morbidity, and every patient had neurodevelopmental (e.g., developmental delay, intellectual disability) and/or other neurological features (e.g., epilepsy, hypotonia, abnormal brain imaging). However, these features were variable and less convincing as unified syndromic presentations. Severe intellectual disability was reported in two patients and global developmental delay was reported in two other patients. This gene has not yet been associated with relevant phenotypes in OMIM, Gene2Phenotype or ClinGen, but associated with amber rating on the intellectual disability panel of PanelApp Australia. Sources: Literature |
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| Intellectual disability v3.1248 | ASXL3 | Arina Puzriakova Publications for gene: ASXL3 were set to 23383720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1247 | ASXL3 | Arina Puzriakova Phenotypes for gene: ASXL3 were changed from BAINBRIDGE-ROPERS SYNDROME; BRPS to Bainbridge-Ropers syndrome, OMIM:615485 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.468 | ASXL3 | Louise Daugherty Source Victorian Clinical Genetics Services was added to ASXL3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||