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| Mendeliome v1.4749 | SLIT2 |
Lucy Spencer changed review comment from: PMID: 26026792 reported A98T (5 hets in gnomad), S566N (111 hets in gnomad) and K904N (1 het in gnomad). PMID: 34059960 reports another three proband with CAKUT and variants in SLIT2. D1276N (absent from gnomad), R287H (2 hets in gnomad), T757A (absent from gnomad). 6 individuals total however 1 variant is common in gnomad and another has 5 hets. No compelling functional data on the variants. The only variant with inheritance ifnromation was inherited from an unaffected parent but that was the common S566N variant. Borderline amber/green; to: PMID: 26026792 reported A98T (5 hets in gnomad), S566N (111 hets in gnomad) and K904N (1 het in gnomad). PMID: 34059960 reports another three proband with CAKUT and variants in SLIT2. D1276N (absent from gnomad), R287H (2 hets in gnomad), T757A (absent from gnomad). 6 individuals total however 1 variant is common in gnomad and another has 5 hets. No compelling functional data on the variants but there is a KO mouse model recapitulating the phenotype. The only variant with inheritance ifnromation was inherited from an unaffected parent but that was the common S566N variant. Borderline amber/green |
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| Mendeliome v1.4749 | SLIT2 | Lucy Spencer Phenotypes for gene: SLIT2 were changed from CAKUT MONDO:0019719, SLIT2-related to Congenital anomaly of kidney and urinary tract MONDO:0019719, SLIT2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4748 | SLIT2 | Lucy Spencer Publications for gene: SLIT2 were set to 26026792; 15130495 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4747 | SLIT2 | Lucy Spencer reviewed gene: SLIT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26026792, 34059960; Phenotypes: Congenital anomaly of kidney and urinary tract MONDO:0019719, SLIT2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2849 | SLIT2 | Zornitza Stark Phenotypes for gene: SLIT2 were changed from CAKUT to CAKUT MONDO:0019719, SLIT2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2848 | SLIT2 | Zornitza Stark edited their review of gene: SLIT2: Changed phenotypes: CAKUT MONDO:0019719, SLIT2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1454 | SLIT2 | Zornitza Stark Marked gene: SLIT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1454 | SLIT2 | Zornitza Stark Gene: slit2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1454 | SLIT2 | Zornitza Stark Phenotypes for gene: SLIT2 were changed from to CAKUT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1453 | SLIT2 | Zornitza Stark Publications for gene: SLIT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1452 | SLIT2 | Zornitza Stark Mode of inheritance for gene: SLIT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1451 | SLIT2 | Zornitza Stark Classified gene: SLIT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1451 | SLIT2 | Zornitza Stark Gene: slit2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1450 | SLIT2 | Zornitza Stark reviewed gene: SLIT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26026792, 15130495; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | SLIT2 |
Zornitza Stark gene: SLIT2 was added gene: SLIT2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLIT2 was set to Unknown |
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