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| Fetal anomalies v2.10 | WNT7B | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: WNT7B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v2.10 | WNT7B |
Arina Puzriakova Tag Q3_22_rating was removed from gene: WNT7B. Tag Q3_22_NHS_review was removed from gene: WNT7B. |
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| Fetal anomalies v2.10 | WNT7B | Arina Puzriakova edited their review of gene: WNT7B: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v2.9 | WNT7B |
Arina Puzriakova Source Expert Review Green was added to WNT7B. Source NHS GMS was added to WNT7B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v1.905 | WNT7B | Arina Puzriakova Classified gene: WNT7B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.905 | WNT7B |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Julia Baptista. There is sufficient evidence to promote this gene to Green at the next GMS panel update. Three families reported with fetuses with multiple congenital anomalies (PMID: 35790350). Biallelic variants were identified in probands of two families and parents in third family were both heterozygous for a variant found in one of the other families. Although the fetus was not available for testing, the genotype can be inferred as homozygous for the variant given the consistent phenotype between cases. Supportive zebrafish model supports pathogenicity. |
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| Fetal anomalies v1.905 | WNT7B | Arina Puzriakova Gene: wnt7b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.904 | WNT7B |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: WNT7B. Tag Q3_22_NHS_review tag was added to gene: WNT7B. |
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| Fetal anomalies v1.873 | WNT7B |
Julia Baptista gene: WNT7B was added gene: WNT7B was added to Fetal anomalies. Sources: Expert Review 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; Cardiac defects Review for gene: WNT7B was set to GREEN Added comment: One homozygous nonsense variant identified in family 1. Compound heterozygous missense and nonsense variants identified in two affected fetuses in family 2. A third family with limited phenotypic information available, with parents heterozygous for the same nonsense variant, p. (Arg98Ter), identified in family 1, but no segregation studies in the affected. Animal studies in Danio rerio were supportive. Lung hypoplasia with tracheal, ocular, cardiac, and renal defects. Sources: Expert Review |
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