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Severe Paediatric Disorders v0.12 | WDR45B | Louise Daugherty reviewed gene: WDR45B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | WDR45 | Louise Daugherty reviewed gene: WDR45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | WDR4 | Louise Daugherty reviewed gene: WDR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | WDR45B | Louise Daugherty Publications for gene WDR45B were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | WDR45 | Louise Daugherty Publications for gene WDR45 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | WDR4 | Louise Daugherty Publications for gene WDR4 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | WDR45B | Louise Daugherty Added phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | WDR45 | Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 5, 300894 for gene: WDR45 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | WDR4 | Louise Daugherty Added phenotypes Microcephaly, growth deficiency, seizures, and brain malformations, 618346; Galloway-Mowat syndrome 6, 618347 for gene: WDR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | WDR45B | Louise Daugherty Added phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | WDR45 | Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 5, 300894 for gene: WDR45 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | WDR4 | Louise Daugherty Added phenotypes Microcephaly, growth deficiency, seizures, and brain malformations, 618346; Galloway-Mowat syndrome 6, 618347 for gene: WDR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | WDR45B | Louise Daugherty Added phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | WDR45 | Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 5, 300894 for gene: WDR45 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | WDR4 | Louise Daugherty Added phenotypes Microcephaly, growth deficiency, seizures, and brain malformations, 618346; Galloway-Mowat syndrome 6, 618347 for gene: WDR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | WDR45B | Louise Daugherty Added phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | WDR45 | Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 5, 300894 for gene: WDR45 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | WDR4 | Louise Daugherty Added phenotypes Galloway-Mowat syndrome 6, 618347; Microcephaly, growth deficiency, seizures, and brain malformations, 618346 for gene: WDR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | WDR45B |
Louise Daugherty Mode of inheritance for gene WDR45B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B |
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Severe Paediatric Disorders v0.8 | WDR45 |
Louise Daugherty Mode of inheritance for gene WDR45 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Neurodegeneration with brain iron accumulation 5, 300894 for gene: WDR45 |
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Severe Paediatric Disorders v0.8 | WDR4 |
Louise Daugherty Mode of inheritance for gene WDR4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Microcephaly, growth deficiency, seizures, and brain malformations, 618346; Galloway-Mowat syndrome 6, 618347 for gene: WDR4 |
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Severe Paediatric Disorders v0.7 | WDR45B | Louise Daugherty Source Next Generation Children Project was added to WDR45B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | WDR45 | Louise Daugherty Source Next Generation Children Project was added to WDR45. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | WDR4 | Louise Daugherty Source Next Generation Children Project was added to WDR4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | WDR45B |
Louise Daugherty Source Expert Review Green was added to WDR45B. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.5 | WDR45 |
Louise Daugherty Source Expert Review Green was added to WDR45. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.5 | WDR4 |
Louise Daugherty Source Expert Review Green was added to WDR4. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | WDR45B |
Louise Daugherty gene: WDR45B was added gene: WDR45B was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: WDR45B was set to |
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Severe Paediatric Disorders v0.4 | WDR45 |
Louise Daugherty gene: WDR45 was added gene: WDR45 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: WDR45 was set to |
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Severe Paediatric Disorders v0.4 | WDR4 |
Louise Daugherty gene: WDR4 was added gene: WDR4 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: WDR4 was set to |