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Severe Paediatric Disorders v1.34 | TRIP4 | Arina Puzriakova Publications for gene: TRIP4 were set to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v1.33 | TRIP4 | Arina Puzriakova Phenotypes for gene: TRIP4 were changed from ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066; Spinal muscular atrophy with congenital bone fractures 1, 616866 to Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866; Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209; Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806; ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | TRIP4 | Louise Daugherty reviewed gene: TRIP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | TRIP4 | Louise Daugherty Publications for gene TRIP4 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | TRIP4 | Louise Daugherty Added phenotypes ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066; Spinal muscular atrophy with congenital bone fractures 1, 616866 for gene: TRIP4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | TRIP4 | Louise Daugherty Added phenotypes ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066; Spinal muscular atrophy with congenital bone fractures 1, 616866 for gene: TRIP4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | TRIP4 | Louise Daugherty Added phenotypes ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066; Spinal muscular atrophy with congenital bone fractures 1, 616866 for gene: TRIP4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | TRIP4 | Louise Daugherty Added phenotypes ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066; Spinal muscular atrophy with congenital bone fractures 1, 616866 for gene: TRIP4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | TRIP4 |
Louise Daugherty Mode of inheritance for gene TRIP4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066; Spinal muscular atrophy with congenital bone fractures 1, 616866 for gene: TRIP4 |
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Severe Paediatric Disorders v0.7 | TRIP4 | Louise Daugherty Source Next Generation Children Project was added to TRIP4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | TRIP4 |
Louise Daugherty Source Expert Review Green was added to TRIP4. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | TRIP4 |
Louise Daugherty gene: TRIP4 was added gene: TRIP4 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TRIP4 was set to |