Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Skeletal dysplasia v1.192 | WDR19 |
Eleanor Williams changed review comment from: PMID: 22019273 - Bredrup et al. (2011) - 2 cases. Case 1 - sister and brother with cranioectodermal dysplasia (Sensenbrenner syndrome) identified compound heterozygosity for variants in the WDR19 gene that cosegregated with disease (L710S, and R1103X, 608151.0002). Case 2 - They also found a a Dutch patient (previously described in Vries et al, 2010) with Jeune syndrome (asphyxiating thoracic dysplasia) and homozygosity for a missense mutation in WDR19 (L7P). PMID: 24504730 - Fehrenbach et al 2014 - 8 year old girl with hypotonia, facial dysmorphism and retardation which were noted shortly after birth. Other features included short stature, mild skeletal anomalies, strabism, deafness, subdural hygroma, hepatosplenomegaly and end-stage renal failure. Identified novel homozygous WDR19 mutation c.1483G > C (p.Gly495Arg) . 3 cases in total.; to: PMID: 22019273 - Bredrup et al. (2011) - 2 cases. Case 1 - sister and brother with cranioectodermal dysplasia (Sensenbrenner syndrome) identified compound heterozygosity for variants in the WDR19 gene that cosegregated with disease (L710S, and R1103X, 608151.0002). Case 2 - They also found a a Dutch patient (previously described in Vries et al, 2010) with Jeune syndrome (asphyxiating thoracic dysplasia) and homozygosity for a missense mutation in WDR19 (L7P). PMID: 24504730 - Fehrenbach et al 2014 - 8 year old girl with hypotonia, facial dysmorphism and retardation which were noted shortly after birth. Other features included short stature, mild skeletal anomalies (such as right-convex scoliosis and congenital hip dysplasia), strabism, deafness, subdural hygroma, hepatosplenomegaly and end-stage renal failure. Identified novel homozygous WDR19 mutation c.1483G > C (p.Gly495Arg) . 3 cases in total. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.192 | WDR19 |
Eleanor Williams changed review comment from: PMID: 22019273 - Bredrup et al. (2011) - sister and brother with cranioectodermal dysplasia (Sensenbrenner syndrome) identified compound heterozygosity for variants in the WDR19 gene that cosegregated with disease (L710S, and R1103X, 608151.0002). Also found a a Dutch patient (previously described in Vries et al, 2010) with Jeune syndrome (asphyxiating thoracic dysplasia) and homozygosity for a missense mutation in WDR19 (L7P). PMID: 24504730 - Fehrenbach et al 2014 - 8 year old girl with hypotonia, facial dysmorphism and retardation which were noted shortly after birth. Other features included short stature, mild skeletal anomalies, strabism, deafness, subdural hygroma, hepatosplenomegaly and end-stage renal failure. Identified novel homozygous WDR19 mutation c.1483G > C (p.Gly495Arg) . 3 cases in total.; to: PMID: 22019273 - Bredrup et al. (2011) - 2 cases. Case 1 - sister and brother with cranioectodermal dysplasia (Sensenbrenner syndrome) identified compound heterozygosity for variants in the WDR19 gene that cosegregated with disease (L710S, and R1103X, 608151.0002). Case 2 - They also found a a Dutch patient (previously described in Vries et al, 2010) with Jeune syndrome (asphyxiating thoracic dysplasia) and homozygosity for a missense mutation in WDR19 (L7P). PMID: 24504730 - Fehrenbach et al 2014 - 8 year old girl with hypotonia, facial dysmorphism and retardation which were noted shortly after birth. Other features included short stature, mild skeletal anomalies, strabism, deafness, subdural hygroma, hepatosplenomegaly and end-stage renal failure. Identified novel homozygous WDR19 mutation c.1483G > C (p.Gly495Arg) . 3 cases in total. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.168 | WDR19 |
Eleanor Williams changed review comment from: PMID: 22019273 - Bredrup et al. (2011) - sister and brother with cranioectodermal dysplasia (Sensenbrenner syndrome) identified compound heterozygosity for variants in the WDR19 gene that cosegregated with disease (L710S, and R1103X, 608151.0002). Also found a a Dutch patient with Jeune syndrome (asphyxiating thoracic dysplasia) and homozygosity for a missense mutation in WDR19 (L7P). PMID: 24504730 - Fehrenbach et al 2014 - 8 year old girl with hypotonia, facial dysmorphism and retardation which were noted shortly after birth. Other features included short stature, mild skeletal anomalies, strabism, deafness, subdural hygroma, hepatosplenomegaly and end-stage renal failure. Identified novel homozygous WDR19 mutation c.1483G > C (p.Gly495Arg) .; to: PMID: 22019273 - Bredrup et al. (2011) - sister and brother with cranioectodermal dysplasia (Sensenbrenner syndrome) identified compound heterozygosity for variants in the WDR19 gene that cosegregated with disease (L710S, and R1103X, 608151.0002). Also found a a Dutch patient (previously described in Vries et al, 2010) with Jeune syndrome (asphyxiating thoracic dysplasia) and homozygosity for a missense mutation in WDR19 (L7P). PMID: 24504730 - Fehrenbach et al 2014 - 8 year old girl with hypotonia, facial dysmorphism and retardation which were noted shortly after birth. Other features included short stature, mild skeletal anomalies, strabism, deafness, subdural hygroma, hepatosplenomegaly and end-stage renal failure. Identified novel homozygous WDR19 mutation c.1483G > C (p.Gly495Arg) . 3 cases in total. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.168 | WDR19 |
Eleanor Williams changed review comment from: PMID: 22019273 - Bredrup et al. (2011) - sister and brother with cranioectodermal dysplasia (Sensenbrenner syndrome) identified compound heterozygosity for variants in the WDR19 gene that cosegregated with disease (L710S, and R1103X, 608151.0002). Also found a a Dutch patient with Jeune syndrome and homozygosity for a missense mutation in WDR19 (L7P). PMID: 24504730 - Fehrenbach et al 2014 - 8 year old girl with hypotonia, facial dysmorphism and retardation which were noted shortly after birth. Other features included short stature, mild skeletal anomalies, strabism, deafness, subdural hygroma, hepatosplenomegaly and end-stage renal failure. Identified novel homozygous WDR19 mutation c.1483G > C (p.Gly495Arg) .; to: PMID: 22019273 - Bredrup et al. (2011) - sister and brother with cranioectodermal dysplasia (Sensenbrenner syndrome) identified compound heterozygosity for variants in the WDR19 gene that cosegregated with disease (L710S, and R1103X, 608151.0002). Also found a a Dutch patient with Jeune syndrome (asphyxiating thoracic dysplasia) and homozygosity for a missense mutation in WDR19 (L7P). PMID: 24504730 - Fehrenbach et al 2014 - 8 year old girl with hypotonia, facial dysmorphism and retardation which were noted shortly after birth. Other features included short stature, mild skeletal anomalies, strabism, deafness, subdural hygroma, hepatosplenomegaly and end-stage renal failure. Identified novel homozygous WDR19 mutation c.1483G > C (p.Gly495Arg) . |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.155 | WDR19 |
Eleanor Williams commented on gene: WDR19: PMID: 22019273 - Bredrup et al. (2011) - sister and brother with cranioectodermal dysplasia (Sensenbrenner syndrome) identified compound heterozygosity for variants in the WDR19 gene that cosegregated with disease (L710S, and R1103X, 608151.0002). Also found a a Dutch patient with Jeune syndrome and homozygosity for a missense mutation in WDR19 (L7P). PMID: 24504730 - Fehrenbach et al 2014 - 8 year old girl with hypotonia, facial dysmorphism and retardation which were noted shortly after birth. Other features included short stature, mild skeletal anomalies, strabism, deafness, subdural hygroma, hepatosplenomegaly and end-stage renal failure. Identified novel homozygous WDR19 mutation c.1483G > C (p.Gly495Arg) . |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.153 | WDR19 |
Eleanor Williams Added phenotypes Cranioectodermal dysplasia 4, 614378; Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 for gene: WDR19 Publications for gene WDR19 were changed from to 22019273; 24504730 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | WDR19 | Tracy Lester reviewed gene: WDR19: Rating: AMBER; Mode of pathogenicity: ; Publications: 24504730, 22019273; Phenotypes: Short-rib thoracic dysplasia 5 with or without polydactyly, 614376, Cranioectodermal dysplasia 4, 614378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | WDR19 | Eleanor Williams reviewed gene: WDR19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | WDR19 | Eleanor Williams Source NHS GMS was added to WDR19. |