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  2. Mucopolysaccharideosis, Gaucher, Fabry
  3. HYAL1
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Mucopolysaccharideosis, Gaucher, Fabry

Gene: HYAL1

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Compound heterozygous reported.
Created: 29 Feb 2016, 6:13 p.m.
Comment on list classification: Demoted from amber to red due to expert review. Is a confirmed DD gene in G2P, though seems to be a report with a single patient. Not enough evidence at this time to be green.
Created: 29 Feb 2016, 6:12 p.m.
Created: 29 Feb 2016, 6:12 p.m.

Panel version: 0.14

Helen Savage (Congenica Ltd)

Red List (low evidence)

Report of a single patient in the literature.
Created: 10 Feb 2016, 12:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IX

Publications

Created: 10 Feb 2016, 12:43 p.m.

Panel version: 0.0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis type IX, 601492
  • Mucopolysaccharidosis, Type IX
OMIM
607071
Clinvar variants
Variants in HYAL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 Feb 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for HYAL1 were set to PMID: 10339581

29 Feb 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for HYAL1 was changed to BIALLELIC, autosomal or pseudoautosomal

29 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Aug 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene HYAL1 was changed to BIALLELIC, autosomal or pseudoautosomal

3 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

HYAL1 was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Illumina TruGenome Clinical Sequencing Services

3 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

HYAL1 was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Radboud University Medical Center, Nijmegen