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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) |
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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 |
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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 |