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| Joubert syndrome and other neurological ciliopathies v0.29 | ZIC1 | Zornitza Stark Marked gene: ZIC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.29 | ZIC1 | Zornitza Stark Gene: zic1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.29 | ZIC1 | Zornitza Stark Phenotypes for gene: ZIC1 were changed from to Structural brain anomalies with impaired intellectual development and craniosynostosis (MIM#618736) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.28 | ZIC1 | Zornitza Stark Mode of pathogenicity for gene: ZIC1 was changed from Other to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.27 | ZIC1 | Zornitza Stark Mode of pathogenicity for gene: ZIC1 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.27 | ZIC1 | Zornitza Stark Publications for gene: ZIC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.26 | ZIC1 | Zornitza Stark Mode of inheritance for gene: ZIC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.25 | ZIC1 | Zornitza Stark Classified gene: ZIC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.25 | ZIC1 | Zornitza Stark Gene: zic1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.24 | ZIC1 | Zornitza Stark reviewed gene: ZIC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Structural brain anomalies with impaired intellectual development and craniosynostosis (MIM#618736); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.20 | ZIC1 |
Crystle Lee changed review comment from: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia (1998) PMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients; to: Single paper from 2015 with reports of variants in ZIC1 - unsure if JS phenotype? Amber/Red PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia (1998) PMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients |
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| Joubert syndrome and other neurological ciliopathies v0.20 | ZIC1 | Crystle Lee Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.20 | ZIC1 |
Crystle Lee changed review comment from: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia PMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients; to: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia (1998) PMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients |
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| Joubert syndrome and other neurological ciliopathies v0.20 | ZIC1 |
Crystle Lee changed review comment from: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia; to: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia (1998) |
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| Joubert syndrome and other neurological ciliopathies v0.20 | ZIC1 |
Crystle Lee commented on gene: ZIC1: PMID: 26340333; Reported 5 families with coronal craniosynotosis and learning disabilities with inconsistent brain abnormalities (1 pt with abnormalities of the cerebellum and pons). 4 nonsense and 1 missense reported to cause disease through GoF mechanism PMID: 9412507; Zic1 deficient mice presented with ataxia and cerebellar hypoplasia PMID: 14981711; This 2004 paper acknowledges that null mice shows JS phenotype, but excluded ZIC1 as causative gene because no pathogenic variants found in cohort of 47 JS patients |
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| Joubert syndrome and other neurological ciliopathies v0.20 | ZIC1 | Crystle Lee edited their review of gene: ZIC1: Changed publications: 26340333, 9412507, 14981711 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.20 | ZIC1 | Crystle Lee reviewed gene: ZIC1: Rating: AMBER; Mode of pathogenicity: Other; Publications: 26340333, 9412507; Phenotypes: Structural brain anomalies with impaired intellectual development and craniosynostosis (MIM#618736); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.0 | ZIC1 |
Zornitza Stark gene: ZIC1 was added gene: ZIC1 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZIC1 was set to Unknown |
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