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| Severe Paediatric Disorders v0.17 | ISPD | Louise Daugherty Mode of inheritance for gene ISPD was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | ISPD | Louise Daugherty edited their review of gene: ISPD: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CRPPA; Recommended initial gene rating: Green List (high evidence); Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3) | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | ISPD | Louise Daugherty Publications for gene ISPD were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | ISPD | Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 for gene: ISPD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | ISPD | Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 for gene: ISPD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | ISPD | Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 for gene: ISPD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | ISPD | Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 for gene: ISPD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | ISPD | Louise Daugherty commented on gene: ISPD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.6 | ISPD | Louise Daugherty Tag new-gene-name tag was added to gene: ISPD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | ISPD | Louise Daugherty Source Next Generation Children Project was added to ISPD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | ISPD |
Louise Daugherty Source Expert Review Green was added to ISPD. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | ISPD |
Louise Daugherty gene: ISPD was added gene: ISPD was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ISPD was set to |
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