GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: WNT7A

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Limb hypoplasia-reduction defects gp of SD, particularly affecting upper and lower limbs (ulna/fibula).green - 4 ; Review on behalf of Tracy Lester/Michael Oldridge
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

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

OMIM

601570

Clinvar variants

Variants in WNT7A

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: WNT7A was added gene: WNT7A was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNT7A were set to Ulna and fibula, absence of, with severe limb deficiency 276820; Fuhrmann syndrome 228930

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: WNT7A