WNT7A

Wnt family member 7A
OMIM: 601570, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green WNT7A in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Santos syndrome, MIM# 613005
  • Fuhrmann syndrome 228930

Green WNT7A in Radial Ray Abnormalities


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fuhrmann syndrome, MIM# 228930
  • Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820

Green WNT7A in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • Fuhrmann syndrome, MIM# 228930
  • Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820
  • Santos syndrome, MIM# 613005

Green WNT7A in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Ulna and fibula, absence of, with severe limb deficiency, 276820 (3)

Green WNT7A in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Fuhrmann syndrome, MIM# 228930
  • Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820

Green WNT7A in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Fuhrmann syndrome MIM#228930
  • Ulna and fibula, absence of, with severe limb deficiency MIM#276820