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| Mendeliome v1.4578 | PDS5A | Chirag Patel Classified gene: PDS5A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4578 | PDS5A | Chirag Patel Gene: pds5a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4577 | PDS5A | Chirag Patel Tag preprint tag was added to gene: PDS5A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.4573 | Chirag Patel Added reviews for gene PDS5A from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4572 | PDS5A | Chirag Patel Marked gene: PDS5A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4572 | PDS5A | Chirag Patel Gene: pds5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4572 | PDS5A | Chirag Patel Classified gene: PDS5A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4572 | PDS5A | Chirag Patel Gene: pds5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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