Dystonia - childhood onset

Gene: PITX3

Red List (low evidence)

PITX3 (paired like homeodomain 3)
EnsemblGeneIds (GRCh38): ENSG00000107859
EnsemblGeneIds (GRCh37): ENSG00000107859
OMIM: 602669, Gene2Phenotype
PITX3 is in 10 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Disorders of Dopamine Synthesis Regulation
OMIM
602669
Clinvar variants
Variants in PITX3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Eleanor Williams: Updated to green when making t

19 Dec 2018, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: PITX3 was added gene: PITX3 was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: PITX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PITX3 were set to 22223473; 21368136; 26392380; 25011953 Phenotypes for gene: PITX3 were set to Disorders of Dopamine Synthesis Regulation