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Mendeliome v2.421 PDS5B Zornitza Stark Publications for gene: PDS5B were set to 41810376
Mendeliome v2.420 PDS5B Zornitza Stark Classified gene: PDS5B as Green List (high evidence)
Mendeliome v2.420 PDS5B Zornitza Stark Gene: pds5b has been classified as Green List (High Evidence).
Mendeliome v2.419 PDS5B Zornitza Stark reviewed gene: PDS5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 42431198; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, PDS5B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.0 PDS5B Gene migrated from ENSG00000083642 to ENSG00000083642 (gene set migration)
Mendeliome v1.4882 PDS5B chirag patel Tag preprint was removed from gene: PDS5B.
Mendeliome v1.4882 PDS5B chirag patel Phenotypes for gene: PDS5B were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder, MONDO:0700092, PDS5B-related
Mendeliome v1.4881 PDS5B chirag patel Publications for gene: PDS5B were set to 10.64898/2026.02.23.26346364
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