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Primary immunodeficiency or monogenic inflammatory bowel disease v8.53 CD274 Arina Puzriakova edited their review of gene: CD274: Changed rating: RED
Primary immunodeficiency or monogenic inflammatory bowel disease v8.53 CD274 Arina Puzriakova Classified gene: CD274 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.53 CD274 Arina Puzriakova Gene: cd274 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v8.52 CD274 Arina Puzriakova Publications for gene: CD274 were set to PMID: 38634869
Primary immunodeficiency or monogenic inflammatory bowel disease v8.51 CD274 Arina Puzriakova Phenotypes for gene: CD274 were changed from ?Autoimmune disease, multisystem, infantile-onset, 5 to ?Autoimmune disease, multisystem, infantile-onset, 5, OMIM:621235
Primary immunodeficiency or monogenic inflammatory bowel disease v8.19 CD274 Hannah Knight gene: CD274 was added
gene: CD274 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: CD274 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD274 were set to PMID: 38634869
Phenotypes for gene: CD274 were set to ?Autoimmune disease, multisystem, infantile-onset, 5
Review for gene: CD274 was set to RED
Added comment: In 2 sibs, born of consanguineous Moroccan parents, PMID: 38634869 identified a homozygous splice site mutation in the CD274 gene.

Both presented with neonatal onset of type 1 diabetes mellitus.

The male proband subsequently developed asthma at 5 months of age, autoimmune hypothyroidism at age 3 years, and growth hormone deficiency at age 10. The boy also had mildly impaired intellectual development and speech delay that was attributed to a de novo heterozygous duplication at 7q11.23, which is associated with neurologic phenotypes and growth hormone deficiency. The sister, who did not have this duplication, had no clinical manifestations other than type 1 diabetes
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.231 CD27 Eleanor Williams Classified gene: CD27 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.231 CD27 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 v2.231 CD27 Eleanor Williams Gene: cd27 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 CD27 Eleanor Williams Source Other was added to CD27.
Publications for gene CD27 were updated from 22197273; 22801960; 25843314 to 25843314; 22801960; 22197273
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 CD27 Eleanor Williams reviewed gene: CD27: Rating: ; Mode of pathogenicity: ; Publications: 25843314, 22801960; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD27 Louise Daugherty commented on gene: CD27: 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 CD27 Louise Daugherty commented on gene: CD27: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West 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 on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD27 Kimberly Gilmour reviewed gene: CD27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 CD27 Tracy Briggs reviewed gene: CD27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 CD27 Louise Daugherty Source NHS GMS was added to CD27.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 CD27 Louise Daugherty Source North West GLH was added to CD27.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 CD27 Louise Daugherty Source London North GLH was added to CD27.
Primary immunodeficiency or monogenic inflammatory bowel disease CD27 Louise Daugherty commented on gene: CD27
Primary immunodeficiency or monogenic inflammatory bowel disease CD27 Louise Daugherty marked gene: CD27 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CD27 Louise Daugherty commented on CD27
Primary immunodeficiency or monogenic inflammatory bowel disease CD27 Louise Daugherty commented on CD27
Primary immunodeficiency or monogenic inflammatory bowel disease CD27 Louise Daugherty reviewed CD27
Primary immunodeficiency or monogenic inflammatory bowel disease CD27 Louise Daugherty Added gene to panel