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  2. GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
  3. PITX3
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GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH

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

1 review

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Hetrozygous variants associated with eye abnormalities. Homozygous variants/deletions have been proposed to be asociated with neurologic defects and micropthalmia, but limited evidence to support this phenotype, particularly in the absence of eye anomalies.
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: 0.10

Details

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

History Filter Activity

9 Jul 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene PITX3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Disorders of Dopamine Synthesis Regulation for gene: PITX3

2 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to PITX3.

2 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: PITX3 was added gene: PITX3 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: PITX3 was set to