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| Fetal anomalies v0.3317 | KDM1A |
Zornitza Stark changed review comment from: Three unrelated individuals with de novo missense variants in this gene and a neurodevelopmental phenotype. Note one of the individuals also had a de novo indel in ANKRD11. Some data published subsequently demonstrating functional impact of all three variants.; to: Three unrelated individuals with de novo missense variants in this gene and a neurodevelopmental phenotype. Note one of the individuals also had a de novo indel in ANKRD11. Some data published subsequently demonstrating functional impact of all three variants. LGA, cleft palate, brain abnormalities reported. |
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| Fetal anomalies v0.152 | ANKRD11 | Zornitza Stark Marked gene: ANKRD11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.152 | ANKRD11 | Zornitza Stark Gene: ankrd11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.152 | ANKRD11 | Zornitza Stark Phenotypes for gene: ANKRD11 were changed from KBG SYNDROME to KBG syndrome, MIM# 148050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.151 | ANKRD11 | Zornitza Stark Publications for gene: ANKRD11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.150 | ANKRD11 | Zornitza Stark Mode of inheritance for gene: ANKRD11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.149 | ANKRD11 |
Zornitza Stark changed review comment from: Single individual reported. Sources: Literature; to: Well established gene-disease association. Microcephaly and skeletal abnormalities are common, in addition to ID and dysmorphic features. Sources: Literature |
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| Fetal anomalies v0.149 | ANKRD11 | Zornitza Stark edited their review of gene: ANKRD11: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ANKRD11 |
Zornitza Stark gene: ANKRD11 was added gene: ANKRD11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ANKRD11 were set to KBG SYNDROME |
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