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  3. ZNF341
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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: ZNF341

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM#618282
  • Mild facial dysmorphism
  • Recurrent respiratory infections, lung abscesses and pneumothoraces
  • Early onset eczema
  • Hyperextensible joints, bone fractures, retention of primary teeth
  • Recurrent bacterial skin infections, abscesses
Clinvar variants
Variants in ZNF341
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: ZNF341 was added gene: ZNF341 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: ZNF341 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF341 were set to 29907691; 29907690 Phenotypes for gene: ZNF341 were set to Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM#618282; Mild facial dysmorphism; Recurrent respiratory infections, lung abscesses and pneumothoraces; Early onset eczema; Hyperextensible joints, bone fractures, retention of primary teeth; Recurrent bacterial skin infections, abscesses