Lysosomal storage disorder
Gene: HYAL1Comment 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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mucopolysaccharidosis type IX 601492
Phenotypes for gene: HYAL1 were changed from ?Mucopolysaccharidosis type IX 601492 to ?Mucopolysaccharidosis type IX OMIM:601492; mucopolysaccharidosis type 9 MONDO:0011093
Gene: hyal1 has been classified as Green List (High Evidence).
Publications for gene: HYAL1 were set to
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