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Primary immunodeficiency or monogenic inflammatory bowel disease v2.484 EXTL3 Arina Puzriakova Phenotypes for gene: EXTL3 were changed from Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425; EXTL3 deficiency; Platyspondyly, kyphosis, variable skeletal dysplasias, developmental delay; Combined immunodeficiencies with associated or syndromic features to Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425
Primary immunodeficiency or monogenic inflammatory bowel disease v2.247 EXTL3 Eleanor Williams Classified gene: EXTL3 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.247 EXTL3 Eleanor Williams Added comment: Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.247 EXTL3 Eleanor Williams Gene: extl3 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 EXTL3 Eleanor Williams Source Other was added to EXTL3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 EXTL3 Eleanor Williams reviewed gene: EXTL3: Rating: ; Mode of pathogenicity: ; Publications: 28148688, 28132690; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 EXTL3 Louise Daugherty commented on gene: EXTL3: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 EXTL3 Louise Daugherty reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 EXTL3 Kimberly Gilmour reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 EXTL3 Tracy Briggs reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 EXTL3 Louise Daugherty Source NHS GMS was added to EXTL3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 EXTL3 Louise Daugherty Source North West GLH was added to EXTL3.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 EXTL3 Louise Daugherty Source London North GLH was added to EXTL3.
Primary immunodeficiency or monogenic inflammatory bowel disease EXTL3 Louise Daugherty reviewed gene: EXTL3
Primary immunodeficiency or monogenic inflammatory bowel disease EXTL3 Louise Daugherty marked gene: EXTL3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease EXTL3 Louise Daugherty marked gene: EXTL3 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease EXTL3 Sophie Hambleton reviewed gene: EXTL3
Primary immunodeficiency or monogenic inflammatory bowel disease EXTL3 Louise Daugherty Added gene to panel