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  2. Anophthalmia or microphthalmia
  3. PITX2
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Anophthalmia or microphthalmia

Gene: PITX2

Green List (high evidence)
PITX2 (paired like homeodomain 2)
EnsemblGeneIds (GRCh38): ENSG00000164093
EnsemblGeneIds (GRCh37): ENSG00000164093
OMIM: 601542, Gene2Phenotype
PITX2 is in 16 panels

2 reviews

David FitzPatrick (University of Edinburgh)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Known expert and diagnostic
Created: 10 May 2016, 12:13 p.m.
Created: 10 May 2016, 12:13 p.m.

Panel version: 0.33

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 May 2016, Gel status: 1

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for PITX2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

PITX2 was added to Anophthalmia/microphthalmiapanel. Sources: Emory Genetics Laboratory