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Severe Paediatric Disorders v1.134 | DCLRE1B | Achchuthan Shanmugasundram Phenotypes for gene: DCLRE1B were changed from HoyeraalHreidarsson syndrome to Dyskeratosis congenita, autosomal recessive 8, OMIM:620133 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.17 | DARS2 | Louise Daugherty Mode of inheritance for gene DARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.17 | DARS | Louise Daugherty Mode of inheritance for gene DARS was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | DARS2 | Louise Daugherty reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | DARS | Louise Daugherty edited their review of gene: DARS: 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: DARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | DARS2 | Louise Daugherty Publications for gene DARS2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | DARS | Louise Daugherty Publications for gene DARS were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | DCLRE1B | Louise Daugherty Added phenotypes HoyeraalHreidarsson syndrome for gene: DCLRE1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | DARS2 | Louise Daugherty Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 for gene: DARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | DARS | Louise Daugherty Added phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | DCLRE1B | Louise Daugherty Added phenotypes HoyeraalHreidarsson syndrome for gene: DCLRE1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | DARS2 | Louise Daugherty Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 for gene: DARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | DARS | Louise Daugherty Added phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | DCLRE1B | Louise Daugherty Added phenotypes HoyeraalHreidarsson syndrome for gene: DCLRE1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | DARS2 | Louise Daugherty Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 for gene: DARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | DARS | Louise Daugherty Added phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | DCLRE1B | Louise Daugherty Added phenotypes HoyeraalHreidarsson syndrome for gene: DCLRE1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | DARS2 | Louise Daugherty Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 for gene: DARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | DARS | Louise Daugherty Added phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | DARS | Louise Daugherty commented on gene: DARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.6 | DARS | Louise Daugherty Tag new-gene-name tag was added to gene: DARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | DARS2 | Louise Daugherty Source Next Generation Children Project was added to DARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | DARS | Louise Daugherty Source Next Generation Children Project was added to DARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | DARS2 |
Louise Daugherty Source Expert Review Green was added to DARS2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.5 | DARS |
Louise Daugherty Source Expert Review Green was added to DARS. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | DARS2 |
Louise Daugherty gene: DARS2 was added gene: DARS2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: DARS2 was set to |
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Severe Paediatric Disorders v0.4 | DARS |
Louise Daugherty gene: DARS was added gene: DARS was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: DARS was set to |