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| Mendeliome v1.4575 | PDS5A |
Chirag Patel changed review comment from: Boone 2026 reports 8 individuals from 8 unrelated families with heterozygous predicted damaging PDS5A variants (5 missense and 3 frameshift) and variable neurodevelopmental features without a unified syndrome. Inheritance of variants was 4 de novo, 2 unknown, and 2 inherited from unaffected parent. PMID 30158690 reports 2 individuals from 2 unrelated families with heterozygous loss‑of‑function PDS5A variants and a CdLS‑like cohesinopathy. One individual had a paternally inherited PDS5A variant (p.E759*) and de novo ASXL3 variant (which explained most of phenotype). The other individual had a de novo PDS5A variant (c.654+5G>C). No functional studies were presented. Sources: Literature; to: Boone 2026 reports 8 individuals from 8 unrelated families with rare heterozygous predicted damaging PDS5A variants (5 missense and 3 frameshift) and variable neurodevelopmental features without a unified syndrome. Inheritance of variants was 4 de novo, 2 unknown, and 2 inherited from unaffected parent. PMID 30158690 reports 2 individuals from 2 unrelated families with heterozygous loss‑of‑function PDS5A variants and a CdLS‑like cohesinopathy. One individual had a paternally inherited PDS5A variant (p.E759*) and de novo ASXL3 variant (which explained most of phenotype). The other individual had a de novo PDS5A variant (c.654+5G>C). No functional studies were presented. Sources: Literature |
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| Mendeliome v1.4571 | PDS5A |
Chirag Patel gene: PDS5A was added gene: PDS5A was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PDS5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDS5A were set to 10.64898/2026.02.23.26346364; 30158690 Phenotypes for gene: PDS5A were set to Complex neurodevelopmental disorder, MONDO:0100038 Review for gene: PDS5A was set to GREEN Added comment: Boone 2026 reports 8 individuals from 8 unrelated families with heterozygous predicted damaging PDS5A variants (5 missense and 3 frameshift) and variable neurodevelopmental features without a unified syndrome. Inheritance of variants was 4 de novo, 2 unknown, and 2 inherited from unaffected parent. PMID 30158690 reports 2 individuals from 2 unrelated families with heterozygous loss‑of‑function PDS5A variants and a CdLS‑like cohesinopathy. One individual had a paternally inherited PDS5A variant (p.E759*) and de novo ASXL3 variant (which explained most of phenotype). The other individual had a de novo PDS5A variant (c.654+5G>C). No functional studies were presented. Sources: Literature |
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| Mendeliome v1.3306 | ASXL3 | Zornitza Stark Publications for gene: ASXL3 were set to 28100473; 27901041; 23383720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3305 | ASXL3 | Zornitza Stark changed review comment from: PMID 32696347: two families with compound het variants and congenital heart disease, some functional data.; to: PMID 32696347: two families with compound het variants and congenital heart disease, some functional data. RED for this MOI and association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3305 | ASXL3 | Zornitza Stark edited their review of gene: ASXL3: Added comment: PMID 32696347: two families with compound het variants and congenital heart disease, some functional data.; Changed publications: 28100473, 27901041, 23383720, 32696347 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.701 | ASXL3 | Zornitza Stark Marked gene: ASXL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.701 | ASXL3 | Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.701 | ASXL3 | Zornitza Stark Phenotypes for gene: ASXL3 were changed from to Bainbridge-Ropers syndrome (OMIM # 615485) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.700 | ASXL3 | Zornitza Stark Publications for gene: ASXL3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.699 | ASXL3 | Zornitza Stark Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.698 | ASXL3 | Zornitza Stark reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100473, 27901041, 23383720; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | ASXL3 |
Zornitza Stark gene: ASXL3 was added gene: ASXL3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ASXL3 was set to Unknown |
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