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| Mendeliome v1.938 | KLHL9 |
Bryony Thompson changed review comment from: A single German family reported in 2010, segregating a missense variant c.796T>C p.Leu95Phe. In vitro functional assays demonstrated the variant diminishes the binding of KLHL9 to Cul3. Sources: Literature; to: A single German family reported in 2010, segregating a missense variant c.796T>C p.Leu95Phe. In vitro functional assays demonstrated the variant diminishes the binding of KLHL9 to Cul3. Ankle flexion contracture is reported in a mouse model, but there are other significant features present in the homozygous animals too - https://www.mousephenotype.org/data/genes/MGI:2180122 Sources: Literature |
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| Mendeliome v1.938 | KLHL9 |
Bryony Thompson gene: KLHL9 was added gene: KLHL9 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: KLHL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLHL9 were set to 20554658 Phenotypes for gene: KLHL9 were set to distal myopathy MONDO:0018949 Review for gene: KLHL9 was set to AMBER Added comment: A single German family reported in 2010, segregating a missense variant c.796T>C p.Leu95Phe. In vitro functional assays demonstrated the variant diminishes the binding of KLHL9 to Cul3. Sources: Literature |
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| Mendeliome v0.6928 | CUL3 | Zornitza Stark Phenotypes for gene: CUL3 were changed from Pseudohypoaldosteronism, type IIE 614496; Intellectual disability; Autism; Seizures to Pseudohypoaldosteronism, type IIE 614496; Neurodevelopmental disorder with or without autism or seizures, MIM# 619239 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6927 | CUL3 | Zornitza Stark edited their review of gene: CUL3: Changed phenotypes: Pseudohypoaldosteronism, type IIE 614496, Neurodevelopmental disorder with or without autism or seizures 619239 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2785 | CUL3 | Zornitza Stark Publications for gene: CUL3 were set to 22495309; 22914163; 25363760; 27824329; 32341456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2784 | CUL3 | Zornitza Stark edited their review of gene: CUL3: Changed publications: 22495309, 22914163, 25363760, 27824329, 32341456, 22266938 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2784 | CUL3 | Zornitza Stark Marked gene: CUL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2784 | CUL3 | Zornitza Stark Gene: cul3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2784 | CUL3 | Zornitza Stark Phenotypes for gene: CUL3 were changed from to Pseudohypoaldosteronism, type IIE 614496; Intellectual disability; Autism; Seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2783 | CUL3 | Zornitza Stark Publications for gene: CUL3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2782 | CUL3 | Zornitza Stark Mode of inheritance for gene: CUL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2781 | CUL3 | Zornitza Stark reviewed gene: CUL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22495309, 22914163, 25363760, 27824329, 32341456; Phenotypes: Pseudohypoaldosteronism, type IIE 614496, Intellectual disability, Autism, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | CUL3 |
Zornitza Stark gene: CUL3 was added gene: CUL3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CUL3 was set to Unknown |
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