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Primary immunodeficiency

Gene: ZNF341

Amber List (moderate evidence)

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

5 reviews

Arina Puzriakova (Genomics England Curator)

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

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

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

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • IUIS Classification December 2019
Phenotypes
  • 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
for-review
Clinvar variants
Variants in ZNF341
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: znf341 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: ZNF341.

15 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: znf341 has been classified as Green List (High Evidence).

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ZNF341 were updated from 32048120; 29907691; 29907690; 32086639 to 32086639; 29907691; 32048120; 29907690

28 Feb 2020, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

26 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: znf341 has been classified as Red List (Low Evidence).

18 Jan 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Owen Siggs (Flinders University)

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