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BabyScreen+ newborn screening

Gene: UTP4

Red List (low evidence)

UTP4 (UTP4, small subunit processome component)
EnsemblGeneIds (GRCh38): ENSG00000141076
EnsemblGeneIds (GRCh37): ENSG00000141076
OMIM: 607456, Gene2Phenotype
UTP4 is in 3 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • North American Indian childhood cirrhosis
OMIM
607456
Clinvar variants
Variants in UTP4
Penetrance
None
Panels with this gene

History Filter Activity

18 Sep 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UTP4 was added gene: UTP4 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: UTP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UTP4 were set to North American Indian childhood cirrhosis