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  3. HYAL1
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Macrocephaly_Megalencephaly

Gene: HYAL1

Red List (low evidence)
HYAL1 (hyaluronoglucosaminidase 1)
EnsemblGeneIds (GRCh38): ENSG00000114378
EnsemblGeneIds (GRCh37): ENSG00000114378
OMIM: 607071, Gene2Phenotype
HYAL1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two families reported: in one, multiple soft tissue masses were the predominant clinical manifestation, and in the second, juvenile arthritis. Mouse model. Macrocephaly is not a reported feature.
Created: 10 Apr 2021, 5:52 a.m. | Last Modified: 10 Apr 2021, 5:52 a.m.
Panel Version: 0.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IX, MIM# 601492; MONDO:0011093

Publications

Created: 10 Apr 2021, 5:52 a.m.
Last Modified: 10 Apr 2021, 5:52 a.m.
Panel version: 0.68

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis type IX, MIM# 601492
  • MONDO:0011093
OMIM
607071
Clinvar variants
Variants in HYAL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Apr 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HYAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

10 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hyal1 has been classified as Red List (Low Evidence).

10 Apr 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HYAL1 were changed from to Mucopolysaccharidosis type IX, MIM# 601492; MONDO:0011093

10 Apr 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HYAL1 were set to

10 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hyal1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HYAL1 was added gene: HYAL1 was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HYAL1 was set to Unknown