Anophthalmia_Microphthalmia_Coloboma
Gene: WNT7BEnsemblGeneIds (GRCh38): ENSG00000188064
EnsemblGeneIds (GRCh37): ENSG00000188064
OMIM: 601967, Gene2Phenotype
WNT7B is in 4 panels
2 reviews
Chirag Patel (Genetic Health Queensland)
2 additional patients (P1 and P22) with microphthalmia as part of PDAC syndrome and biallelic variants in WNT7B.Created: 18 Apr 2023, 4:16 a.m. | Last Modified: 18 Apr 2023, 4:16 a.m.
Panel Version: 1.31
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome; Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related
Publications
- PMID: 35790350
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three families reported with fetuses with multiple congenital anomalies and bi-allelic LoF variants. Two of the families had at the same variant. Supportive zebrafish model. Uncertain if all had anophthalmia/microphthalmia.
Sources: LiteratureCreated: 14 Jul 2022, 1:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome; Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome
- Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related
- OMIM
- 601967
- Clinvar variants
- Variants in WNT7B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: wnt7b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wnt7b has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wnt7b has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: WNT7B was added gene: WNT7B was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature Mode of inheritance for gene: WNT7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT7B were set to 35790350 Phenotypes for gene: WNT7B were set to Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome; Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related Review for gene: WNT7B was set to AMBER