USB1

U6 snRNA biogenesis phosphodiesterase 1
OMIM: 613276, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green USB1 in COVID-19 research Level 2: Viral research Version 1.147	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Phenotypes Poikiloderma with neutropenia, 604173 Clericuzio-type poikiloderma with neutropenia syndrome Congenital defects of phagocyte number or function Retinopathy, developmental delay, facial dysmorphisms, poikiloderma
Green USB1 in Pigmentary skin disorders Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Poikiloderma with neutropenia PN POIKILODERMA WITH NEUTROPENIA
Green USB1 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.85 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Phenotypes Poikiloderma with neutropenia, 604173 Clericuzio-type poikiloderma with neutropenia syndrome Retinopathy, developmental delay, facial dysmorphisms, poikiloderma Congenital defects of phagocyte number or function
Red USB1 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	Not set	Sources Expert Review Red Expert list Phenotypes Poikiloderma with neutropenia 604173 Dyskeratosis congenita
Green USB1 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green North West GLH Yorkshire and North East GLH London South GLH NHS GMS Wessex and West Midlands GLH Phenotypes Poikiloderma with neutropenia, 604173 604173 Poikiloderma with neutropenia Dyskeratosis congenita
Red USB1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.169 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes Poikiloderma with neutropenia
Green USB1 in DDG2P Version 6.438 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Poikiloderma with neutropenia
Red USB1 in Intellectual disability Level 2: Developmental disorders Version 9.330 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Poikiloderma with neutropenia