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| Fetal anomalies v0.3993 | SRGAP1 | Zornitza Stark Marked gene: SRGAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3993 | SRGAP1 | Zornitza Stark Gene: srgap1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3993 | SRGAP1 | Zornitza Stark Classified gene: SRGAP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3993 | SRGAP1 | Zornitza Stark Gene: srgap1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3508 | SRGAP1 |
Krithika Murali gene: SRGAP1 was added gene: SRGAP1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SRGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SRGAP1 were set to 26026792 Phenotypes for gene: SRGAP1 were set to congenital anomalies of the kidney and urinary tract Review for gene: SRGAP1 was set to AMBER Added comment: PMID 26026792 Hwang et al report 2 unrelated families with heterozygous SRGAP1 variants. - Family 1 - proband with prenatally diagnosed multicystic dysplastic kidney, affected mother with right duplex kidney - Family 2 - proband with horseshoe kidney with a multicystic dysplastic right upper pole. Variant paternally inherited, father not available for renal ultrasound Supportive mouse models Sources: Literature |
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