Radial dysplasia
Gene: WNT7A
WNT7A (Wnt family member 7A)
EnsemblGeneIds (GRCh38): ENSG00000154764
EnsemblGeneIds (GRCh37): ENSG00000154764
OMIM: 601570, Gene2Phenotype
WNT7A is in 8 panels
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 reviewCreated: 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)
Tier 2Created: 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