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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)
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
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
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
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