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Severe Paediatric Disorders v0.17 GRIP1 Louise Daugherty Mode of inheritance for gene GRIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 RPGRIP1L Louise Daugherty reviewed gene: RPGRIP1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 RPGRIP1 Louise Daugherty reviewed gene: RPGRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GRIP1 Louise Daugherty reviewed gene: GRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 RPGRIP1L Louise Daugherty Publications for gene RPGRIP1L were updated from to 30847515
Severe Paediatric Disorders v0.11 RPGRIP1 Louise Daugherty Publications for gene RPGRIP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 GRIP1 Louise Daugherty Publications for gene GRIP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RPGRIP1L Louise Daugherty Mode of inheritance for gene RPGRIP1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.11 RPGRIP1 Louise Daugherty Mode of inheritance for gene RPGRIP1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 RPGRIP1L Louise Daugherty Added phenotypes Meckel syndrome 5, 611561; COACH syndrome, 216360; Joubert syndrome 7, 611560 for gene: RPGRIP1L
Severe Paediatric Disorders v0.10 RPGRIP1 Louise Daugherty Added phenotypes Leber congenital amaurosis 6, 613826; Cone-rod dystrophy 13, 608194 for gene: RPGRIP1
Severe Paediatric Disorders v0.10 GRIP1 Louise Daugherty Added phenotypes Fraser syndrome 3, 617667 for gene: GRIP1
Severe Paediatric Disorders v0.9 RPGRIP1L Louise Daugherty Added phenotypes Meckel syndrome 5, 611561; COACH syndrome, 216360; Joubert syndrome 7, 611560 for gene: RPGRIP1L
Severe Paediatric Disorders v0.9 RPGRIP1 Louise Daugherty Added phenotypes Leber congenital amaurosis 6, 613826; Cone-rod dystrophy 13, 608194 for gene: RPGRIP1
Severe Paediatric Disorders v0.9 GRIP1 Louise Daugherty Added phenotypes Fraser syndrome 3, 617667 for gene: GRIP1
Severe Paediatric Disorders v0.9 RPGRIP1L Louise Daugherty Added phenotypes Meckel syndrome 5, 611561; COACH syndrome, 216360; Joubert syndrome 7, 611560 for gene: RPGRIP1L
Severe Paediatric Disorders v0.9 RPGRIP1 Louise Daugherty Added phenotypes Leber congenital amaurosis 6, 613826; Cone-rod dystrophy 13, 608194 for gene: RPGRIP1
Severe Paediatric Disorders v0.9 GRIP1 Louise Daugherty Added phenotypes Fraser syndrome 3, 617667 for gene: GRIP1
Severe Paediatric Disorders v0.8 RPGRIP1L Louise Daugherty Added phenotypes COACH syndrome, 216360; Joubert syndrome 7, 611560; Meckel syndrome 5, 611561 for gene: RPGRIP1L
Severe Paediatric Disorders v0.8 RPGRIP1 Louise Daugherty Added phenotypes Leber congenital amaurosis 6, 613826; Cone-rod dystrophy 13, 608194 for gene: RPGRIP1
Severe Paediatric Disorders v0.8 GRIP1 Louise Daugherty Added phenotypes Fraser syndrome 3, 617667 for gene: GRIP1
Severe Paediatric Disorders v0.7 RPGRIP1L Louise Daugherty Source Next Generation Children Project was added to RPGRIP1L.
Severe Paediatric Disorders v0.7 RPGRIP1 Louise Daugherty Source Next Generation Children Project was added to RPGRIP1.
Severe Paediatric Disorders v0.7 GRIP1 Louise Daugherty Source Next Generation Children Project was added to GRIP1.
Severe Paediatric Disorders v0.5 RPGRIP1L Louise Daugherty Source Expert Review Green was added to RPGRIP1L.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 RPGRIP1 Louise Daugherty Source Expert Review Green was added to RPGRIP1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 GRIP1 Louise Daugherty Source Expert Review Green was added to GRIP1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 RPGRIP1L Louise Daugherty gene: RPGRIP1L was added
gene: RPGRIP1L was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: RPGRIP1L was set to
Severe Paediatric Disorders v0.4 RPGRIP1 Louise Daugherty gene: RPGRIP1 was added
gene: RPGRIP1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: RPGRIP1 was set to
Severe Paediatric Disorders v0.4 GRIP1 Louise Daugherty gene: GRIP1 was added
gene: GRIP1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: GRIP1 was set to