Activity

Filter

Cancel
Date Panel Item Activity
8 actions
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