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  3. HYAL1
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Lysosomal storage disorder

Gene: HYAL1

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

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Comments from Dr Clare E Beesley, Clinical Scientist, London North Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust: 2 unrelated families that have variants (PMIDs 10339581, 21559944), also have a confirmed enzyme diagnosis and there is a mouse model that shows similar features (PMID 26322170).
Created: 13 Aug 2019, 10:18 a.m. | Last Modified: 13 Aug 2019, 10:18 a.m.
Panel Version: 0.8
Created: 13 Aug 2019, 10:18 a.m.
Last Modified: 13 Aug 2019, 10:18 a.m.
Panel version: 0.8

Emma Ashton (Great Ormond Street Hospital)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Mucopolysaccharidosis type IX 601492

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
  • North London GLH
Phenotypes
  • ?Mucopolysaccharidosis type IX OMIM:601492
  • mucopolysaccharidosis type 9 MONDO:0011093
OMIM
607071
Clinvar variants
Variants in HYAL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: HYAL1 were changed from ?Mucopolysaccharidosis type IX 601492 to ?Mucopolysaccharidosis type IX OMIM:601492; mucopolysaccharidosis type 9 MONDO:0011093

13 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: hyal1 has been classified as Green List (High Evidence).

13 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: HYAL1 were set to

13 Feb 2019, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: HYAL1 was added gene: HYAL1 was added to Lysosomal storage disorder. Sources: North London GLH,Wessex and West Midlands GLH,Expert Review Amber,NHS GMS Mode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HYAL1 were set to ?Mucopolysaccharidosis type IX 601492