Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: ZNF341

ZNF341 (zinc finger protein 341)
EnsemblGeneIds (GRCh38): ENSG00000131061
EnsemblGeneIds (GRCh37): ENSG00000131061
ZNF341 is in 2 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval. Additional comments from NTGLH: 'Pseudogene affecting exon 15'
Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.

Panel Version: 2.529

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

Created: 20 Oct 2020, 3:47 p.m.
Last Modified: 20 Oct 2020, 3:47 p.m.
Panel version: 2.529

Ivone Leong (Genomics England Curator)

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

Created: 15 Apr 2020, 2:31 p.m.
Last Modified: 15 Apr 2020, 2:31 p.m.
Panel version: 2.65

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 12 Apr 2020, 4:37 a.m.
Last Modified: 12 Apr 2020, 4:37 a.m.
Panel version: 2.51

Louise Daugherty (Genomics England Curator)

I don't know

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

Publications

Created: 22 Jan 2020, 11:36 a.m.
Last Modified: 22 Jan 2020, 11:36 a.m.
Panel version: 2.36

Owen Siggs (Flinders University)

Green List (high evidence)

Ten unrelated families with nonsense or frameshift variants.
Sources: Literature
Created: 18 Jan 2020, 7:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyper-IgE syndrome

Publications

Created: 18 Jan 2020, 7:55 a.m.

Panel version: 2.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
IUIS Classification December 2019

Phenotypes

Hyper-IgE syndrome 3, autosomal recessive, with recurrent infections, OMIM:618282
Hyper-IgE syndrome
Bacterial infections, mild facial dysmorphism, pneumatoceles, hyperextensible joints, bone fractures, retention of primary teeth
Combined immunodeficiencies with associated or syndromic features

Tags

gene-checked

Clinvar variants

Variants in ZNF341

Penetrance

None

Publications

Panels with this gene