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Prepair 1000+

Gene: WNT7A

Green List (high evidence)

WNT7A (Wnt family member 7A)
EnsemblGeneIds (GRCh38): ENSG00000154764
EnsemblGeneIds (GRCh37): ENSG00000154764
OMIM: 601570, Gene2Phenotype
WNT7A is in 9 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

The WNT7A gene is associated with Fuhrmann syndrome MIM#228930 and Ulna and fibula, absence of, with severe limb deficiency MIM#276820 (aka Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome, AARRS syndrome).

Variants that result in partial/moderate loss of WNT7A activity, often lead to the milder phenotype (Fuhrmann syndrome), whilst those with total loss of activity (null effect) resulted in the more severe phenotype (AARRS syndrome), similar to effects found in knockout mice (PMIDs: 16826533, 23922166).

However, the same variant has been reported in association with both phenotypes in different families (PMID: 23922166).

NB: Santos syndrome MIM#613005 has been reported in one family. AD with incomplete penetrance was suggested, but AR is not ruled out (listed as AR in OMIM) (PMID: 28855715).
Created: 5 Feb 2025, 12:49 a.m. | Last Modified: 5 Feb 2025, 12:49 a.m.
Panel Version: 1.1456

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fuhrmann syndrome MIM#228930
  • Ulna and fibula, absence of, with severe limb deficiency MIM#276820
OMIM
601570
Clinvar variants
Variants in WNT7A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wnt7a has been classified as Green List (High Evidence).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WNT7A were changed from Ulna and fibula, absence of, with severe limb deficiency, 276820 (3) to Fuhrmann syndrome MIM#228930; Ulna and fibula, absence of, with severe limb deficiency MIM#276820

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WNT7A were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WNT7A was added gene: WNT7A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3)