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Undiagnosed metabolic disorders

Gene: HYAL1

Green List (high evidence)

HYAL1 (hyaluronoglucosaminidase 1)
EnsemblGeneIds (GRCh38): ENSG00000114378
EnsemblGeneIds (GRCh37): ENSG00000114378
OMIM: 607071, Gene2Phenotype
HYAL1 is in 8 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Confirmed DD-G2P gene for MIM:601492. 2 unrelated cases: 1 compound het case in PMID:10339581 plus 3 affected children of a consangineous family reported with HYAL1 variant in PMID:21559944. Plus mouse model.
Created: 23 Feb 2017, 5:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Mucopolysaccharidosis type IX, 601492

Publications

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: MPS IX, Natowicz (MPS IV, Morquio disease)
Created: 1 Jul 2019, 2:43 p.m. | Last Modified: 1 Jul 2019, 2:43 p.m.
Panel Version: 1.116
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. Only 2 variants reported in one patient.
Created: 16 Jan 2017, 4:35 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • ?Mucopolysaccharidosis type IX, 601492
OMIM
607071
Clinvar variants
Variants in HYAL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

1 Jul 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: HYAL1 were changed from MPS IX, Natowicz (MPS IV, Morquio disease); ?Mucopolysaccharidosis type IX, 601492 to ?Mucopolysaccharidosis type IX, 601492

1 Jul 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: HYAL1 were set to 27604308

28 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Feb 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

24 Feb 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HYAL1 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Green

16 Jan 2017, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

16 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

16 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

16 Jan 2017, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

HYAL1 was added to Undiagnosed metabolic disorderspanel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

HYAL1 was added to Undiagnosed metabolic disorderspanel. Sources: Literature

28 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

HYAL1 was created by sleigh