Primary immunodeficiencyGene: ZNF341
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).
Created: 20 Oct 2020, 3:47 p.m. | Last Modified: 20 Oct 2020, 3:47 p.m.
Panel Version: 2.366
Comment on list classification: Promoted from Red to Green based on expert reviews.
Created: 15 Apr 2020, 2:31 p.m. | Last Modified: 15 Apr 2020, 2:31 p.m.
Panel Version: 2.65
19 individuals from 10 families reported, some sharing the same homozygous variants (at least 4 different LoF variants reported).
Created: 12 Apr 2020, 4:37 a.m. | Last Modified: 12 Apr 2020, 4:37 a.m.
Panel Version: 2.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
Variants in this GENE are reported as part of current diagnostic practice
Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
Comment on list classification: New gene added for review
Created: 26 Feb 2020, 4:40 p.m. | Last Modified: 26 Feb 2020, 4:40 p.m.
Panel Version: 2.10
New gene suggested by expert reviewer- unable to do a full curational review (Green rating recommended) as we are waiting for new PanelApp features before this gene can be added to this GMS panel.
Created: 22 Jan 2020, 11:36 a.m. | Last Modified: 22 Jan 2020, 11:36 a.m.
Panel Version: 2.0
Gene: znf341 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: ZNF341.
Gene: znf341 has been classified as Green List (High Evidence).
Publications for gene ZNF341 were updated from 32048120; 29907691; 29907690; 32086639 to 32086639; 29907691; 32048120; 29907690
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
Gene: znf341 has been classified as Red List (Low Evidence).
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