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Anophthalmia_Microphthalmia_Coloboma v1.32 | WNT7B | Chirag Patel Classified gene: WNT7B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia_Microphthalmia_Coloboma v1.32 | WNT7B | Chirag Patel Gene: wnt7b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia_Microphthalmia_Coloboma v1.31 | WNT7B | Chirag Patel reviewed gene: WNT7B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35790350; Phenotypes: Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome, Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia_Microphthalmia_Coloboma v1.24 | WNT7B | Zornitza Stark Marked gene: WNT7B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia_Microphthalmia_Coloboma v1.24 | WNT7B | Zornitza Stark Gene: wnt7b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia_Microphthalmia_Coloboma v1.24 | WNT7B | Zornitza Stark Classified gene: WNT7B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia_Microphthalmia_Coloboma v1.24 | WNT7B | Zornitza Stark Gene: wnt7b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia_Microphthalmia_Coloboma v1.23 | WNT7B |
Zornitza Stark 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 Added comment: 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: Literature |