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DDG2P v3.79 PBX1 Achchuthan Shanmugasundram Tag curated_removed was removed from gene: PBX1.
DDG2P v3.12 PBX1 Achchuthan Shanmugasundram reviewed gene: PBX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35451537; Phenotypes: PBX1-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.11 PBX1 Achchuthan Shanmugasundram Source Expert Review Green was added to PBX1.
Source DD-Gene2Phenotype was added to PBX1.
Mode of inheritance for gene PBX1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes PBX1-related developmental disorder (monoallelic) for gene: PBX1
Publications for gene: PBX1 were updated from to 35451537
Rating Changed from No List (delete) to Green List (high evidence)
DDG2P v2.55 PBX1 Eleanor Williams Classified gene: PBX1 as No list
DDG2P v2.55 PBX1 Eleanor Williams Added comment: Comment on list classification: Changing the status to Expert Review Removed, as the content of the panel is only changed when updated from DDG2P sources. The status of this gene on other panels has been checked.
DDG2P v2.55 PBX1 Eleanor Williams Gene: pbx1 has been removed from the panel.
DDG2P v2.54 PBX1 Eleanor Williams Tag curated_removed tag was added to gene: PBX1.
DDG2P v2.54 PBX1 Eleanor Williams Classified gene: PBX1 as No list
DDG2P v2.54 PBX1 Eleanor Williams Gene: pbx1 has been removed from the panel.
DDG2P v2.53 PBX1 Eleanor Williams commented on gene: PBX1
DDG2P v2.53 PBX1 Eleanor Williams Deleted their review
DDG2P v2.53 PBX1 Eleanor Williams Deleted their comment
DDG2P v2.53 PBX1 Eleanor Williams commented on gene: PBX1
DDG2P v2.53 PBX1 Dmitrijs Rots gene: PBX1 was added
gene: PBX1 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PBX1 were set to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Review for gene: PBX1 was set to GREEN
Added comment: Syndromic gene. Most of the individuals present with developmental delay, according to OMIM.
Sources: Literature