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| Lysosomal storage disorder v1.39 | HYAL1 | Sarah Leigh Phenotypes for gene: HYAL1 were changed from ?Mucopolysaccharidosis type IX 601492 to ?Mucopolysaccharidosis type IX OMIM:601492; mucopolysaccharidosis type 9 MONDO:0011093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.8 | HYAL1 | Sarah Leigh Classified gene: HYAL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.8 | HYAL1 | Sarah Leigh Added comment: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.8 | HYAL1 | Sarah Leigh Gene: hyal1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.7 | HYAL1 | Sarah Leigh Publications for gene: HYAL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | HYAL1 | Emma Ashton reviewed gene: HYAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | HYAL1 | Carol Hardy reviewed gene: HYAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mucopolysaccharidosis type IX 601492; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.2 | HYAL1 |
Ivone Leong 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 |
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