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| Paediatric disorders - additional genes v1.96 | HYAL2 | Arina Puzriakova Tag gene-checked tag was added to gene: HYAL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.96 | HYAL2 | Arina Puzriakova Tag for-review was removed from gene: HYAL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.96 | HYAL2 | Sarah Leigh commented on gene: HYAL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.95 | HYAL2 |
Arina Puzriakova Source Expert Review Green was added to HYAL2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Paediatric disorders - additional genes v1.80 | HYAL2 | Eleanor Williams Classified gene: HYAL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.80 | HYAL2 | Eleanor Williams Added comment: Comment on list classification: After consultation with the Genomics England clinical team the recommendation is that this gene be rated green based on two unrelated families both which contain individuals with a cardiac phenotype, and a mouse model in which the cardiac phenotype is also noted. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.80 | HYAL2 | Eleanor Williams Gene: hyal2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.79 | HYAL2 | Eleanor Williams Tag for-review tag was added to gene: HYAL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.76 | HYAL2 | Eleanor Williams Classified gene: HYAL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.76 | HYAL2 | Eleanor Williams Gene: hyal2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.75 | HYAL2 | Eleanor Williams Classified gene: HYAL2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.75 | HYAL2 | Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber. Checking with Genomics England clinical team as to whether a green rating would be appropriate. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.75 | HYAL2 | Eleanor Williams Gene: hyal2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.74 | HYAL2 |
Eleanor Williams gene: HYAL2 was added gene: HYAL2 was added to Paediatric disorders - additional genes. Sources: Literature Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYAL2 were set to 28081210; 23172227; 26515055 Phenotypes for gene: HYAL2 were set to cor triatriatum; congenital cardiac malformations Review for gene: HYAL2 was set to AMBER Added comment: PMID: 28081210 (Muggenthaler et al 2017) report 2 unrelated consanguineous extended families (Amish and Arab) who have an orofacial clefting phenotype with cardiac anomalies are also reported. In pedigree 1 (Amish) 5/5 analysed individuals had cleft lip and palate. 3/5 had congenital cardiac malformations including left cor triatriatum and dilated coronary sinus consistent with persistent left superior vena cava. All had a homzogyous c.443A>G, p.K148R variant which segregated with the disorder in the pedigree. It was found in a heterozygous state at a frequency of 0.013 in the Amish population, but was not found in 1000 Genomes or ExAC databases. In pedigree 2 (Arab) 1/2 analysed individuals had cleft lip and palate and 1/2 had an abnormal mitral valve with accessory tissue. Both were found to have a homozygous c.749C>T; p.P250L variant following whole genome SNP mapping. This variant was found in 2 individuals in the ExAC database in heterozygous state. Transient expression of the patient variants in mouse embryonic fibroblasts showed a large decrease in protein levels compared to wild type. They report that valvular thickening and atrial dilatation are found in all Hyal2-/- mice (PMID: 23172227) and that Cor triatriatum sinister has been detected in 50% of Hyal2-/- mice (PMID: 26515055). Sources: Literature |
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