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Intellectual disability v3.1499 POLR1D Arina Puzriakova Phenotypes for gene: POLR1D were changed from Treacher Collins syndrome 2, 613717 to Treacher Collins syndrome 2, OMIM:613717
Intellectual disability v3.1498 POLR1D Arina Puzriakova Mode of inheritance for gene: POLR1D was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v3.622 POLR1D Arina Puzriakova Classified gene: POLR1D as Red List (low evidence)
Intellectual disability v3.622 POLR1D 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 v3.622 POLR1D Arina Puzriakova Gene: polr1d has been classified as Red List (Low Evidence).
Intellectual disability v3.1 POLR1D Zornitza Stark reviewed gene: POLR1D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Treacher Collins syndrome 2, MIM# 613717; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability POLR1D BRIDGE consortium edited their review of POLR1D
Intellectual disability POLR1D Louise Daugherty classified POLR1D as amber
Intellectual disability POLR1D Louise Daugherty commented on POLR1D
Intellectual disability POLR1D BRIDGE consortium reviewed POLR1D