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Limb disorders

Gene: WNT7A

Green List (high evidence)

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

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to WNT7A. Panel: Limb disorders Phenotypes for gene WNT7A were set to Fuhrmann syndrome 228930, Ulna and fibula, absence of, with severe limb deficiency 276820, Polydactyly

5 Apr 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

Expert list was added to WNT7A. Panel: Limb disorders Emory Genetics Laboratory was added to WNT7A. Panel: Limb disorders Expert Review Green was added to WNT7A. Panel: Limb disorders UKGTN was added to WNT7A. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to WNT7A. Panel: Limb disorders Model of inheritance for gene WNT7A was set to BIALLELIC, autosomal or pseudoautosomal

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to WNT7A. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

WNT7A was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

WNT7A was created by Ellen McDonagh