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Intellectual disability - microarray and sequencing v3.978 POLD1 Arina Puzriakova Phenotypes for gene: POLD1 were changed from {Colorectal cancer, susceptibility to, 10}, 612591; Mandibular; hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 to {Colorectal cancer, susceptibility to, 10}, 612591; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381
Intellectual disability - microarray and sequencing v3.621 POLD1 Arina Puzriakova Classified gene: POLD1 as Red List (low evidence)
Intellectual disability - microarray and sequencing v3.621 POLD1 Arina Puzriakova Added comment: Comment on list classification: Following discussion with the Genomics England clinical team, this gene has been demoted from Amber to Red, in accordance with the external review by Zornitza Stark (Australian Genomics)
Intellectual disability - microarray and sequencing v3.621 POLD1 Arina Puzriakova Gene: pold1 has been classified as Red List (Low Evidence).
Intellectual disability - microarray and sequencing v3.1 POLD1 Zornitza Stark reviewed gene: POLD1: Rating: RED; Mode of pathogenicity: None; Publications: 31449058; Phenotypes: Intellectual disability, immunodeficiency, Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing POLD1 BRIDGE consortium edited their review of POLD1
Intellectual disability - microarray and sequencing POLD1 Louise Daugherty classified POLD1 as amber
Intellectual disability - microarray and sequencing POLD1 Louise Daugherty commented on POLD1
Intellectual disability - microarray and sequencing POLD1 BRIDGE consortium reviewed POLD1