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Primary immunodeficiency or monogenic inflammatory bowel disease v2.548 ZNF341 Arina Puzriakova Tag gene-checked tag was added to gene: ZNF341.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 ZNF341 Arina Puzriakova Tag for-review was removed from gene: ZNF341.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 ZNF341 Arina Puzriakova commented on gene: ZNF341: The rating of this gene has been updated following NHS Genomic Medicine Service approval. Additional comments from NTGLH: 'Pseudogene affecting exon 15'
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 ZNF341 Arina Puzriakova Source Expert Review Green was added to ZNF341.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.366 ZNF341 Arina Puzriakova Classified gene: ZNF341 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.366 ZNF341 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.366 ZNF341 Arina Puzriakova Gene: znf341 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.365 ZNF341 Arina Puzriakova Tag for-review tag was added to gene: ZNF341.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.65 ZNF341 Ivone Leong Classified gene: ZNF341 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.65 ZNF341 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on expert reviews.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.65 ZNF341 Ivone Leong Gene: znf341 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 ZNF341 Zornitza Stark reviewed gene: ZNF341: Rating: GREEN; Mode of pathogenicity: None; Publications: 29907691, 29907690; Phenotypes: Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282, Mild facial dysmorphism, Early onset eczema, Recurrent bacterial skin infections, abscesses, Recurrent respiratory infections, lung abscesses and pneumothoraces, Hyperextensible joints, bone fractures, retention of primary teeth; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 ZNF341 Louise Daugherty edited their review of gene: ZNF341: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 29907691, 29907690
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 ZNF341 Louise Daugherty Publications for gene ZNF341 were updated from 32048120; 29907691; 29907690; 32086639 to 32086639; 29907691; 32048120; 29907690
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 ZNF341 Louise Daugherty Source IUIS Classification December 2019 was added to ZNF341.
Added phenotypes Bacterial infections, mild facial dysmorphism, pneumatoceles, hyperextensible joints, bone fractures, retention of primary teeth; Combined immunodeficiencies with associated or syndromic features for gene: ZNF341
Publications for gene ZNF341 were updated from 29907690; 29907691 to 32048120; 29907691; 29907690; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.10 ZNF341 Louise Daugherty Classified gene: ZNF341 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.10 ZNF341 Louise Daugherty Added comment: Comment on list classification: New gene added for review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.10 ZNF341 Louise Daugherty Gene: znf341 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 ZNF341 Louise Daugherty reviewed gene: ZNF341: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 ZNF341 Owen Siggs gene: ZNF341 was added
gene: ZNF341 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: ZNF341 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF341 were set to 29907690; 29907691
Phenotypes for gene: ZNF341 were set to Hyper-IgE syndrome
Review for gene: ZNF341 was set to GREEN
Added comment: Ten unrelated families with nonsense or frameshift variants.
Sources: Literature