Radial dysplasia

Gene: WNT7A

Green List (high evidence)

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.

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.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Ulna and fibula, absence of, with severe limb deficiency, 276820
  • Short, bowed radii
  • absence of a radius
  • Fuhrmann syndrome, 228930
OMIM
601570
Clinvar variants
Variants in WNT7A
Penetrance
Complete
Panels with this gene

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

5 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

WNT7A was added to Radial dysplasiapanel. Source: Expert list

5 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

WNT7A was created by rfoulger

5 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

WNT7A was added to Radial dysplasiapanel. Sources: Other