| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.4577 | PDS5B | Chirag Patel Tag preprint tag was added to gene: PDS5B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4577 | PDS5B | Chirag Patel Classified gene: PDS5B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4577 | PDS5B | Chirag Patel Gene: pds5b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4575 | PDS5B |
Chirag Patel changed review comment from: Boone 2026 reports 8 individuals from 8 unrelated families with rare heterozygous loss of function PDS5B variants and variable neurodevelopmental features. Inheritance of variants was 4 de novo, 3 unknown, and 1 inherited from unaffected parent. No functional studies were presented. Sources: Literature; to: Boone 2026 reports 8 individuals from 8 unrelated families with rare heterozygous loss of function PDS5B variants and variable neurodevelopmental features. Inheritance of variants was 4 de novo, 3 unknown, and 1 inherited from unaffected parent. No functional studies were presented. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4575 | PDS5B |
Chirag Patel changed review comment from: Boone 2026 reports 8 individuals from 8 unrelated families with heterozygous loss of function PDS5B variants and variable neurodevelopmental features. Inheritance of variants was 4 de novo, 3 unknown, and 1 inherited from unaffected parent. No functional studies were presented. Sources: Literature; to: Boone 2026 reports 8 individuals from 8 unrelated families with rare heterozygous loss of function PDS5B variants and variable neurodevelopmental features. Inheritance of variants was 4 de novo, 3 unknown, and 1 inherited from unaffected parent. No functional studies were presented. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4575 | PDS5B | Chirag Patel Classified gene: PDS5B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4575 | PDS5B | Chirag Patel Gene: pds5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4574 | PDS5B | Chirag Patel Marked gene: PDS5B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4574 | PDS5B | Chirag Patel Gene: pds5b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4574 | PDS5B |
Chirag Patel gene: PDS5B was added gene: PDS5B was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PDS5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDS5B were set to 10.64898/2026.02.23.26346364 Phenotypes for gene: PDS5B were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: PDS5B was set to GREEN Added comment: Boone 2026 reports 8 individuals from 8 unrelated families with heterozygous loss of function PDS5B variants and variable neurodevelopmental features. Inheritance of variants was 4 de novo, 3 unknown, and 1 inherited from unaffected parent. No functional studies were presented. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||