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Phagocyte Defects

Gene: USB1

Green List (high evidence)
USB1 (U6 snRNA biogenesis phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000103005
EnsemblGeneIds (GRCh37): ENSG00000103005
OMIM: 613276, Gene2Phenotype
USB1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Poikiloderma with neutropaenia (PN) is characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, noncyclic neutropaenia, short stature, and recurrent pulmonary infections. More than 10 unrelated families reported.
Created: 19 Jun 2021, 1:51 a.m. | Last Modified: 19 Jun 2021, 1:51 a.m.
Panel Version: 0.61

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Poikiloderma with neutropaenia, MIM# 604173; MONDO:0011405

Publications

Created: 19 Jun 2021, 1:51 a.m.
Last Modified: 19 Jun 2021, 1:51 a.m.
Panel version: 0.61

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Poikiloderma with neutropaenia, MIM# 604173
  • MONDO:0011405
OMIM
613276
Clinvar variants
Variants in USB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: USB1 were changed from Poikiloderma with neutropenia (OMIM #604173) to Poikiloderma with neutropaenia, MIM# 604173; MONDO:0011405

19 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: USB1 were set to 25044170; 27612988

23 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: USB1 were changed from Poikiloderma with neutropenia (OMIM #604173) to Poikiloderma with neutropenia (OMIM #604173)

23 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: usb1 has been classified as Green List (High Evidence).

23 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: USB1 were changed from to Poikiloderma with neutropenia (OMIM #604173)

23 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: USB1 were set to

23 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: USB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: USB1 was added gene: USB1 was added to Phagocyte defects_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: USB1 was set to Unknown