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Severe Paediatric Disorders v0.12 OFD1 Louise Daugherty reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 OFD1 Louise Daugherty Publications for gene OFD1 were updated from to 30847515
Severe Paediatric Disorders v0.11 OFD1 Louise Daugherty Mode of inheritance for gene OFD1 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)
Severe Paediatric Disorders v0.10 OFD1 Louise Daugherty Added phenotypes Joubert syndrome 10, 300804; ?Retinitis pigmentosa 23, 300424; Simpson-Golabi-Behmel syndrome, type 2, 300209; Orofaciodigital syndrome I, 311200 for gene: OFD1
Severe Paediatric Disorders v0.9 OFD1 Louise Daugherty Added phenotypes Joubert syndrome 10, 300804; ?Retinitis pigmentosa 23, 300424; Simpson-Golabi-Behmel syndrome, type 2, 300209; Orofaciodigital syndrome I, 311200 for gene: OFD1
Severe Paediatric Disorders v0.9 OFD1 Louise Daugherty Added phenotypes Joubert syndrome 10, 300804; ?Retinitis pigmentosa 23, 300424; Simpson-Golabi-Behmel syndrome, type 2, 300209; Orofaciodigital syndrome I, 311200 for gene: OFD1
Severe Paediatric Disorders v0.8 OFD1 Louise Daugherty Added phenotypes Joubert syndrome 10, 300804; Simpson-Golabi-Behmel syndrome, type 2, 300209; Orofaciodigital syndrome I, 311200; ?Retinitis pigmentosa 23, 300424 for gene: OFD1
Severe Paediatric Disorders v0.7 OFD1 Louise Daugherty Source Next Generation Children Project was added to OFD1.
Severe Paediatric Disorders v0.5 OFD1 Louise Daugherty Source Expert Review Green was added to OFD1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 OFD1 Louise Daugherty gene: OFD1 was added
gene: OFD1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: OFD1 was set to