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| Cerebral Palsy v1.187 | ESAM |
Luisa Weiss changed review comment from: Lecca et al. reported 13 individuals from 8 families (4 of which coming from the same geographical region) with a severe neurodevelopmental disorder. Although no formal diagnosis of CP was made, all patients had spasticity and most patients showed spastic tetraparesis. Many patients showed additional phenotypic features (like dysmorphism). All mutations were predicted to be Loss of function mutations. ESAM encodes an endothelial cell adhesion molecule. A recurrent variant (c.115del;p.(Arg39Glyfs∗33)) was functionally analyzed and showed to impair the in vitro tubulogenic process of endothelial colony-forming cells and to caus lack of ESAM expression in the capillary endothelial cells of damaged brain. Sources: Literature; to: Lecca et al. reported 13 individuals from 8 families (4 of which coming from the same geographical region) with a severe neurodevelopmental disorder. Although no formal diagnosis of CP was made, all patients had spasticity and most patients showed spastic tetraparesis. Many patients showed additional phenotypic features (like dysmorphism). All mutations were predicted to be Loss of function mutations. ESAM encodes an endothelial cell adhesion molecule. A recurrent variant (c.115del;p.(Arg39Glyfs∗33)) was functionally analyzed and showed to impair the in vitro tubulogenic process of endothelial colony-forming cells and to cause lack of ESAM expression in the capillary endothelial cells of damaged brain. Sources: Literature |
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| Cerebral Palsy v1.187 | ESAM |
Luisa Weiss gene: ESAM was added gene: ESAM was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESAM were set to 36996813 Phenotypes for gene: ESAM were set to Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity MIM#620371 Review for gene: ESAM was set to GREEN Added comment: Lecca et al. reported 13 individuals from 8 families (4 of which coming from the same geographical region) with a severe neurodevelopmental disorder. Although no formal diagnosis of CP was made, all patients had spasticity and most patients showed spastic tetraparesis. Many patients showed additional phenotypic features (like dysmorphism). All mutations were predicted to be Loss of function mutations. ESAM encodes an endothelial cell adhesion molecule. A recurrent variant (c.115del;p.(Arg39Glyfs∗33)) was functionally analyzed and showed to impair the in vitro tubulogenic process of endothelial colony-forming cells and to caus lack of ESAM expression in the capillary endothelial cells of damaged brain. Sources: Literature |
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| Cerebral Palsy v1.142 | PROC | Zornitza Stark Phenotypes for gene: PROC were changed from Thrombophilia due to protein C deficiency, autosomal recessive, MIM# 612304 to Thrombophilia 3 due to protein C deficiency MIM#176860; Thrombophilia 3 due to protein C deficiency MIM#612304 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.141 | PROC | Zornitza Stark Publications for gene: PROC were set to 31700678; 20187890 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.140 | PROC | Zornitza Stark Mode of inheritance for gene: PROC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.139 | PROC | Zornitza Stark Classified gene: PROC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.139 | PROC | Zornitza Stark Gene: proc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.133 | PROC | Luisa Weiss reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: 31700678, 20187890, 34531397; Phenotypes: Thrombophilia 3 due to protein C deficiency MIM#176860, Thrombophilia 3 due to protein C deficiency MIM#612304; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.34 | PROC | Zornitza Stark Marked gene: PROC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.34 | PROC | Zornitza Stark Gene: proc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.34 | PROC | Zornitza Stark Classified gene: PROC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.34 | PROC | Zornitza Stark Gene: proc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.33 | PROC |
Zornitza Stark gene: PROC was added gene: PROC was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PROC were set to 31700678; 20187890 Phenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency, autosomal recessive, MIM# 612304 Review for gene: PROC was set to AMBER Added comment: Bi-allelic PROC variants described in 2 families presenting as complex CP. Other features such as purpura fulminans may be present depending on severity. Sources: Literature |
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