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  2. TEST Undiagnosed metabolic disorders
  3. HYAL1
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TEST Undiagnosed metabolic disorders

Gene: HYAL1

Green List (high evidence)
HYAL1 (hyaluronoglucosaminidase 1)
EnsemblGeneIds (GRCh38): ENSG00000114378
EnsemblGeneIds (GRCh37): ENSG00000114378
OMIM: 607071, Gene2Phenotype
HYAL1 is in 9 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Literature
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
OMIM
607071
Clinvar variants
Variants in HYAL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: HYAL1 was added gene: HYAL1 was added to TEST Undiagnosed metabolic disorders. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Expert Review Green,Literature,Emory Genetics Laboratory Mode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYAL1 were set to 21559944; 26322170; 27604308; 10339581