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Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 FOXN1 Achchuthan Shanmugasundram Tag Q3_22_MOI was removed from gene: FOXN1.
Primary immunodeficiency or monogenic inflammatory bowel disease v3.4 FOXN1 Achchuthan Shanmugasundram commented on gene: FOXN1
Primary immunodeficiency or monogenic inflammatory bowel disease v3.3 FOXN1 Achchuthan Shanmugasundram Mode of inheritance for gene FOXN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.552 FOXN1 Arina Puzriakova changed review comment from: Comment on mode of inheritance: Should be updated from 'biallelic' to 'both mono- and biallelic' at the next GMS update. Severe recurrent infections due to T-cell deficiency usually apparent from birth has been associated with both homozygous and heterozygous variants in the FOXN1 gene. Sufficient cases for both inheritance types to rate as Green with this MOI.; to: Comment on mode of inheritance: Should be updated from 'biallelic' to 'both mono- and biallelic' at the next GMS update. Severe recurrent infections due to T-cell deficiency usually apparent from birth have been associated with both homozygous and heterozygous variants in the FOXN1 gene. Sufficient cases for both inheritance types to rate as Green with this MOI.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.552 FOXN1 Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'biallelic' to 'both mono- and biallelic' at the next GMS update. Severe recurrent infections due to T-cell deficiency usually apparent from birth has been associated with both homozygous and heterozygous variants in the FOXN1 gene. Sufficient cases for both inheritance types to rate as Green with this MOI.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.552 FOXN1 Arina Puzriakova Mode of inheritance for gene: FOXN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.551 FOXN1 Arina Puzriakova Tag Q3_22_MOI tag was added to gene: FOXN1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.551 FOXN1 Arina Puzriakova commented on gene: FOXN1
Primary immunodeficiency or monogenic inflammatory bowel disease v2.551 FOXN1 Arina Puzriakova Phenotypes for gene: FOXN1 were changed from T-B+ SCID; T-B+ SCID, congenital alopecia, nail dystrophy, 601705; T-cell immunodeficiency, congenital alopecia, and nail dystrophy; Nude severe combined immunodeficiency; Severe infections, abnormal thymic epithelium, immunodeficiency, congenital alopecia, nail dystrophy, neural tube defect; Combined immunodeficiencies with associated or syndromic features to T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 (AR); T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, OMIM:618806 (AD); T-B+ SCID; Severe infections, abnormal thymic epithelium, immunodeficiency, congenital alopecia, nail dystrophy, neural tube defect; Combined immunodeficiencies with associated or syndromic features
Primary immunodeficiency or monogenic inflammatory bowel disease v2.252 FOXN1 Eleanor Williams Classified gene: FOXN1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.252 FOXN1 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 v2.252 FOXN1 Eleanor Williams Gene: foxn1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 FOXN1 Eleanor Williams Source Other was added to FOXN1.
Publications for gene FOXN1 were updated from 28636882; 15180707; 21507891; 11159512; 31447097; 10206641; 28077132; 29593714 to 11159512; 29593714; 21507891; 10206641; 28636882; 15180707; 28077132; 31447097
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 FOXN1 Eleanor Williams reviewed gene: FOXN1: Rating: ; Mode of pathogenicity: ; Publications: 10206641; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 FOXN1 Louise Daugherty edited their review of gene: FOXN1: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 31447097
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 FOXN1 Louise Daugherty Publications for gene FOXN1 were updated from 15180707; 10206641; 21507891; 28636882; 28077132; 29593714; 11159512 to 28636882; 15180707; 21507891; 11159512; 31447097; 10206641; 28077132; 29593714
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FOXN1 Louise Daugherty commented on gene: FOXN1: 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 FOXN1 Louise Daugherty commented on gene: FOXN1: 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 FOXN1 Kimberly Gilmour edited their review of gene: FOXN1: Added comment: agree with green gene; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 FOXN1 Tracy Briggs reviewed gene: FOXN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 FOXN1 Louise Daugherty Source NHS GMS was added to FOXN1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 FOXN1 Louise Daugherty Source North West GLH was added to FOXN1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 FOXN1 Louise Daugherty Source London North GLH was added to FOXN1.
Primary immunodeficiency or monogenic inflammatory bowel disease FOXN1 Louise Daugherty commented on gene: FOXN1
Primary immunodeficiency or monogenic inflammatory bowel disease FOXN1 Louise Daugherty marked gene: FOXN1 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease FOXN1 Louise Daugherty edited their review of gene: FOXN1
Primary immunodeficiency or monogenic inflammatory bowel disease FOXN1 Louise Daugherty classified FOXN1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease FOXN1 Louise Daugherty commented on gene: FOXN1
Primary immunodeficiency or monogenic inflammatory bowel disease FOXN1 Louise Daugherty commented on gene: FOXN1
Primary immunodeficiency or monogenic inflammatory bowel disease FOXN1 Louise Daugherty commented on gene: FOXN1
Primary immunodeficiency or monogenic inflammatory bowel disease FOXN1 Louise Daugherty edited their review of FOXN1
Primary immunodeficiency or monogenic inflammatory bowel disease FOXN1 Louise Daugherty commented on FOXN1
Primary immunodeficiency or monogenic inflammatory bowel disease FOXN1 Louise Daugherty commented on FOXN1
Primary immunodeficiency or monogenic inflammatory bowel disease FOXN1 Louise Daugherty commented on FOXN1
Primary immunodeficiency or monogenic inflammatory bowel disease FOXN1 Louise Daugherty reviewed FOXN1
Primary immunodeficiency or monogenic inflammatory bowel disease FOXN1 Louise Daugherty Added gene to panel