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Intellectual disability - microarray and sequencing 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 - microarray and sequencing 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 - microarray and sequencing v3.622 POLR1D Arina Puzriakova Classified gene: POLR1D as Red List (low evidence)
Intellectual disability - microarray and sequencing 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 - microarray and sequencing v3.622 POLR1D Arina Puzriakova Gene: polr1d has been classified as Red List (Low Evidence).
Intellectual disability - microarray and sequencing 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 - microarray and sequencing POLR1D BRIDGE consortium edited their review of POLR1D
Intellectual disability - microarray and sequencing POLR1D Louise Daugherty classified POLR1D as amber
Intellectual disability - microarray and sequencing POLR1D Louise Daugherty commented on POLR1D
Intellectual disability - microarray and sequencing POLR1D BRIDGE consortium reviewed POLR1D