Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.67 | PDS5A | Achchuthan Shanmugasundram Publications for gene: PDS5A were set to 42431198 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.66 | PDS5A | Achchuthan Shanmugasundram edited their review of gene: PDS5A: Changed publications to: 30158690, 42431198 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.66 | PDS5A | Achchuthan Shanmugasundram Classified gene: PDS5A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.66 | PDS5A |
Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are four unrelated patients reported with only heterozygous variants from PDS5A gene and with intellectual disability/ global developmental delay, the phenotype is not consistent across the eight reported patients with heterozygous PDS5A variants. Hence, the gene should be rated amber with current evidence. The 'watchlist' tag has been added to review the gene upon any new evidence. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.66 | PDS5A | Achchuthan Shanmugasundram Gene: pds5a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.65 | PDS5A | Achchuthan Shanmugasundram Tag watchlist tag was added to gene: PDS5A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.65 | PDS5A |
Achchuthan Shanmugasundram gene: PDS5A was added gene: PDS5A was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: PDS5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDS5A were set to 42431198 Phenotypes for gene: PDS5A were set to complex neurodevelopmental disorder, MONDO:0100038 Review for gene: PDS5A was set to AMBER Added comment: 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||