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Clefting v2.67 | HYAL2 | Arina Puzriakova Tag gene-checked tag was added to gene: HYAL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.63 | HYAL2 | Eleanor Williams Tag for-review was removed from gene: HYAL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.63 | HYAL2 | Eleanor Williams commented on gene: HYAL2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.62 | HYAL2 |
Eleanor Williams Source Expert Review Green was added to HYAL2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Clefting v2.20 | HYAL2 | Ivone Leong Tag for-review tag was added to gene: HYAL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.15 | HYAL2 | Eleanor Williams Phenotypes for gene: HYAL2 were changed from Cleft lip and palate, cor triatriatum to cleft lip/palate MONDO:0016044; triatrial heart MONDO:0015450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.14 | HYAL2 | Eleanor Williams Classified gene: HYAL2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.14 | HYAL2 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber but with recommendation for green rating following GMS review. This is based on 2 reported unrelated cases with different proposed causative variants in HYAL2, plus a mouse knockout model which replicates the human phenotype and some functional data reporting the effect of patient variants on protein levels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.14 | HYAL2 | Eleanor Williams Gene: hyal2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.13 | HYAL2 | Eleanor Williams edited their review of gene: HYAL2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.13 | HYAL2 | Eleanor Williams reviewed gene: HYAL2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28081210; Phenotypes: cleft lip/palate MONDO:0016044; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Clefting v2.3 | HYAL2 |
Aleš Maver changed review comment from: This entry is based on finding of homozygous HYAL2 variants in two inbred families with cleft lip and palate (CLP) in PMID:28081210. Five Amish individuals aged 4–16 years affected by a syndromic form of CLP were reported with a homozygous variant K148R variant in HYAL2 gene and two children aged 7 and 12 years from an extended consanguineous Arab family were reported with a homozygous P250L variant in HYAL2 gene. Reduced expression of the HYAL2 protein consequental to the two missense variants was shown in functional assays (PMID:28081210). Study of Hyal2 knock-out mice has also shown underdeveloped central palate bones and absence/reduction of ethmoid bone. The entry is based on this single study, therefore currently leaving this at Red level of evidence. Sources: Literature; to: This entry is based on finding of homozygous HYAL2 variants in two inbred families with cleft lip and palate (CLP) in PMID:28081210. Five Amish individuals aged 4–16 years affected by a syndromic form of CLP were reported with a homozygous variant K148R in HYAL2 gene and two children aged 7 and 12 years from an extended consanguineous Arab family were reported with a homozygous P250L variant in HYAL2 gene. Reduced expression of the HYAL2 protein consequental to the two missense variants was shown in functional assays (PMID:28081210). Study of Hyal2 knock-out mice has also shown underdeveloped central palate bones and absence/reduction of ethmoid bone. The entry is based on this single study, therefore currently leaving this at Red level of evidence. Sources: Literature |
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Clefting v2.3 | HYAL2 |
Aleš Maver changed review comment from: This entry is based on finding of homozygous HYAL2 variants in two inbred families with cleft lip and palate (CLP) in PMID:28081210. Five Amish individuals aged 4–16 years affected by a syndromic form of CLP were reported with a homozygous variant K148R variant in HYAL2 gene and two children aged 7 and 12 years from an extended consanguineous Arab family were reported with a homozygous P250L variant in HYAL2 gene. Reduced expression of the HYAL2 protein consequental to the two missense vairants was shown in functional assays (PMID:28081210). Study of Hyal2 knock-out mice has also shown underdeveloped central palate bones and absence/reduction of ethmoid bone. The entry is based on this single study, therefore currently leaving this at Red level of evidence. Sources: Literature; to: This entry is based on finding of homozygous HYAL2 variants in two inbred families with cleft lip and palate (CLP) in PMID:28081210. Five Amish individuals aged 4–16 years affected by a syndromic form of CLP were reported with a homozygous variant K148R variant in HYAL2 gene and two children aged 7 and 12 years from an extended consanguineous Arab family were reported with a homozygous P250L variant in HYAL2 gene. Reduced expression of the HYAL2 protein consequental to the two missense variants was shown in functional assays (PMID:28081210). Study of Hyal2 knock-out mice has also shown underdeveloped central palate bones and absence/reduction of ethmoid bone. The entry is based on this single study, therefore currently leaving this at Red level of evidence. Sources: Literature |
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Clefting v2.3 | HYAL2 |
Aleš Maver changed review comment from: This entry is based on finding of homozygous HYAL2 variants in two inbred families with cleft lip and palate (CLP). Five Amish individuals aged 4–16 years affected by a syndromic form of CLP were reported with a homozygous variant K148R variant in HYAL2 gene and two children aged 7 and 12 years from an extended consanguineous Arab family were reported with a homozygous P250L variant in HYAL2 gene. Reduced expression of the HYAL2 protein consequental to the two missense vairants was shown in functional assays (PMID:28081210). Study of Hyal2 knock-out mice has also shown underdeveloped central palate bones and absence/reduction of ethmoid bone. The entry is based on this single study, therefore currently leaving this at Red level of evidence. Sources: Literature; to: This entry is based on finding of homozygous HYAL2 variants in two inbred families with cleft lip and palate (CLP) in PMID:28081210. Five Amish individuals aged 4–16 years affected by a syndromic form of CLP were reported with a homozygous variant K148R variant in HYAL2 gene and two children aged 7 and 12 years from an extended consanguineous Arab family were reported with a homozygous P250L variant in HYAL2 gene. Reduced expression of the HYAL2 protein consequental to the two missense vairants was shown in functional assays (PMID:28081210). Study of Hyal2 knock-out mice has also shown underdeveloped central palate bones and absence/reduction of ethmoid bone. The entry is based on this single study, therefore currently leaving this at Red level of evidence. Sources: Literature |
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Clefting v2.3 | HYAL2 |
Aleš Maver gene: HYAL2 was added gene: HYAL2 was added to Clefting. Sources: Literature Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYAL2 were set to 28081210 Phenotypes for gene: HYAL2 were set to Cleft lip and palate, cor triatriatum Penetrance for gene: HYAL2 were set to unknown Review for gene: HYAL2 was set to RED Added comment: This entry is based on finding of homozygous HYAL2 variants in two inbred families with cleft lip and palate (CLP). Five Amish individuals aged 4–16 years affected by a syndromic form of CLP were reported with a homozygous variant K148R variant in HYAL2 gene and two children aged 7 and 12 years from an extended consanguineous Arab family were reported with a homozygous P250L variant in HYAL2 gene. Reduced expression of the HYAL2 protein consequental to the two missense vairants was shown in functional assays (PMID:28081210). Study of Hyal2 knock-out mice has also shown underdeveloped central palate bones and absence/reduction of ethmoid bone. The entry is based on this single study, therefore currently leaving this at Red level of evidence. Sources: Literature |