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Prepair 1000+

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

Michelle Torres (Victorian Clinical Genetics Services)

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.

Inflammatory eczematous rash appears at ages 6-12 months, followed by post-inflammatory poikiloderma at age >2 years and chronic noncyclic neutropenia typically associated with recurrent sinopulmonary infections in the first two years of life (GeneReviews PMID: 29072891).
Created: 21 Jan 2025, 2:27 a.m. | Last Modified: 21 Jan 2025, 2:27 a.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Poikiloderma with neutropenia MIM#604173

Publications

Created: 21 Jan 2025, 2:27 a.m.
Last Modified: 21 Jan 2025, 2:27 a.m.
Panel version: 1.1257

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Poikiloderma with neutropenia MIM#604173
OMIM
613276
Clinvar variants
Variants in USB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2025, 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 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: USB1 were changed from Poikiloderma with neutropenia, 604173 (3) to Poikiloderma with neutropenia MIM#604173

23 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: USB1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: USB1 was added gene: USB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: USB1 were set to Poikiloderma with neutropenia, 604173 (3)