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  3. WNT3
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Structural eye disease

Gene: WNT3

Red List (low evidence)
WNT3 (Wnt family member 3)
EnsemblGeneIds (GRCh38): ENSG00000108379
EnsemblGeneIds (GRCh37): ENSG00000108379
OMIM: 165330, Gene2Phenotype
WNT3 is in 8 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

Niemann et al., 2004. consanguineous Turkish family with autosomal recessive tetraamelia syndrome (TETAMS1) and homozygous stopgain variant. 4 available fetuses: fetus IV:4 had protrusion and cataract of the left eye, microphthalmia of the right eye, etc. Eiraku 2011: WNT3a promotes the RPE differentiation and suppresses the neural retina generation.
Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91

Publications

Created: 2 Oct 2019, 3:48 p.m.
Last Modified: 2 Oct 2019, 3:48 p.m.
Panel version: 0.91

Mariya Moosajee (Moorfields Eye Hospital)

Green List (high evidence)

Phenotypes
Tetraamelia Syndrome 1, TETAMS1

Created: 23 Apr 2019, 2:12 p.m.

Panel version: 0.60

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
Phenotypes
  • Tetraamelia Syndrome 1, TETAMS1, 273395
OMIM
165330
Clinvar variants
Variants in WNT3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Oct 2019, Gel status: 1

Added New Source, Added New Source, Set publications, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to WNT3. Source Expert Review Red was added to WNT3. Publications for gene WNT3 were changed from to 14872406 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

16 Sep 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to WNT3. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

23 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: WNT3 was added gene: WNT3 was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNT3 were set to Tetraamelia Syndrome 1, TETAMS1, 273395