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Severe Paediatric Disorders v0.12 | FRMD4A | Louise Daugherty reviewed gene: FRMD4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | FRMD4A | Louise Daugherty Publications for gene FRMD4A were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | FRMD4A | Louise Daugherty Added phenotypes ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 for gene: FRMD4A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | FRMD4A | Louise Daugherty Added phenotypes ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 for gene: FRMD4A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | FRMD4A | Louise Daugherty Added phenotypes ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 for gene: FRMD4A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | FRMD4A | Louise Daugherty Added phenotypes ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 for gene: FRMD4A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | FRMD4A |
Louise Daugherty Mode of inheritance for gene FRMD4A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 for gene: FRMD4A |
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Severe Paediatric Disorders v0.7 | FRMD4A | Louise Daugherty Source Next Generation Children Project was added to FRMD4A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | FRMD4A |
Louise Daugherty Source Expert Review Amber was added to FRMD4A. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Severe Paediatric Disorders v0.4 | FRMD4A |
Louise Daugherty gene: FRMD4A was added gene: FRMD4A was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: FRMD4A was set to |