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| Severe microcephaly v1.77 | UFM1 | Louise Daugherty commented on gene: UFM1: Gene rated Green this rating was suggested in an email to the test group on 6th November after review by Genomics England clinical team review, and indicating if there were no further comments on the rating the gene would rated as per provisional suggestion as per recommended on the current evidence in the literature | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.74 | UFM1 | Helen Brittain reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28931644, 29868776, 27545674; Phenotypes: Leukodystrophy, hypomyelinating, 14, 617899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.61 | UFM1 | Louise Daugherty Source NHS GMS was added to UFM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.60 | UFC1 |
Louise Daugherty changed review comment from: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene recommended to be added to the panel by Astrid Weber during the call (Geoff Woods is one of the authors). it was suggested that Geoff Woods opinion on this gene would be helpful too, in view of the presence on his publication of the UFM1 gene. PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green Sources: Expert list; to: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene recommended to be added to the panel by Astrid Weber during the call (Geoff Woods is one of the authors). It was suggested that Geoff Woods opinion on this gene would be helpful too, in view of the presence on his publication of the UFM1 gene. PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green Sources: Expert list |
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| Severe microcephaly v1.60 | UFC1 |
Louise Daugherty gene: UFC1 was added gene: UFC1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: UFC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UFC1 were set to Neurodevelopmental disorder with spasticity and poor growth, 618076; microcephaly Review for gene: UFC1 was set to AMBER Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene recommended to be added to the panel by Astrid Weber during the call (Geoff Woods is one of the authors). it was suggested that Geoff Woods opinion on this gene would be helpful too, in view of the presence on his publication of the UFM1 gene. PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green Sources: Expert list |
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| Severe microcephaly v1.57 | UFM1 | Louise Daugherty Classified gene: UFM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.57 | UFM1 | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and PMIDs as recommended during the call and in light of evidence as evidence to gene can be upgraded to Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.57 | UFM1 | Louise Daugherty Gene: ufm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.56 | UFM1 | Louise Daugherty Added comment: Comment on publications: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019 : added PMIDs as recommended to support rating of gene to be Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.56 | UFM1 | Louise Daugherty Publications for gene: UFM1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.54 | UFM1 | Louise Daugherty Phenotypes for gene: UFM1 were changed from Leukodystrophy, hypomyelinating, 14, 617899 to Leukodystrophy, hypomyelinating, 14, 617899; microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.53 | UFM1 |
Louise Daugherty gene: UFM1 was added gene: UFM1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14, 617899 Review for gene: UFM1 was set to GREEN Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green. Sources: Expert list |
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