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  2. Likely inborn error of metabolism
  3. HYAL1
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Likely inborn error of metabolism

Gene: HYAL1

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

Created: 23 Feb 2017, 5:14 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

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.
Created: 16 Jan 2017, 4:35 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.119

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ?Mucopolysaccharidosis type IX, 601492
  • MPS IX, Natowicz (MPS IV, Morquio disease)
OMIM
607071
Clinvar variants
Variants in HYAL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to HYAL1. Source London North GLH was added to HYAL1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: HYAL1 was added gene: HYAL1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYAL1 were set to 27604308 Phenotypes for gene: HYAL1 were set to ?Mucopolysaccharidosis type IX, 601492; MPS IX, Natowicz (MPS IV, Morquio disease)