Pituitary hormone deficiency

Gene: POLR3A

Red List (low evidence)

POLR3A (RNA polymerase III subunit A)
EnsemblGeneIds (GRCh38): ENSG00000148606
EnsemblGeneIds (GRCh37): ENSG00000148606
OMIM: 614258, Gene2Phenotype
POLR3A is in 20 panels

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History Filter Activity

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: PAX6 is confirmed to be associ

7 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: POLR3A was added gene: POLR3A was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694)