Limb disorders
Gene: WNT7A

WNT7A (Wnt family member 7A)
EnsemblGeneIds (GRCh38): ENSG00000154764
EnsemblGeneIds (GRCh37): ENSG00000154764
OMIM: 601570, Gene2Phenotype
WNT7A is in 8 panels

3 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Although typically associated with absence of the ulna, the radius is therefore often shortened and bowed. A single forearm bone may be difficult to identify by the non-expert. Therefore include on the radial dysplasia panel.
Created: 11 May 2017, 2:19 p.m.

Comment on list classification: Sufficient cases as per Sarah Leigh's review
Created: 11 May 2017, 2:18 p.m.

Created: 11 May 2017, 2:18 p.m.

Panel version: Imported from Radial dysplasia panel version 0.154

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in G2P. Four variants reported in Ulna and fibula, absence of, with severe limb deficiency 276820 and one in Fuhrmann syndrome 228930.
Created: 13 Jul 2016, 7:12 a.m.

Created: 13 Jul 2016, 7:12 a.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.657

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fuhrmann syndrome 228930; Ulna and fibula, absence of, with severe limb deficiency 276820

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

Created: 17 Jun 2016, 8:10 a.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Radboud University Medical Center, Nijmegen
UKGTN
Expert Review Green
Emory Genetics Laboratory
Expert list
London South East RGC GSTT
Viapath

Phenotypes

Polydactyly
Ulna and fibula, absence of, with severe limb deficiency 276820
absence of a radius
Fuhrmann syndrome, 228930
Fuhrmann syndrome 228930
Ulna and fibula, absence of, with severe limb deficiency, 276820
Short, bowed radii

OMIM

601570

Clinvar variants

Variants in WNT7A

Penetrance

None

Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

16 Oct 2018, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Added phenotypes absence of a radius; Fuhrmann syndrome, 228930; Ulna and fibula, absence of, with severe limb deficiency, 276820; Short, bowed radii for gene: WNT7A

13 Aug 2018, Gel status: 4