| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Callosome v0.509 | ZEB1 | Zornitza Stark Phenotypes for gene: ZEB1 were changed from Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270; Corneal dystrophy, posterior polymorphous, 3, MIM# 609141; Corpus callosum abnormalities to Corpus callosum abnormalities MONDO:0009022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.508 | ZEB1 | Zornitza Stark Publications for gene: ZEB1 were set to 24780443; 28284480; 28742278 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.507 | ZEB1 | Suliman Khan changed review comment from: PMID: 37857482 reported nine individuals from 6 unrelated families with anomalies of the corpus callosum. All reported patients had normal schooling and none of them had ID. In five cases, the variant was inherited from a parent with a normal corpus callosum, which illustrated the incomplete penetrance of anomalies of the corpus callosum in individuals with a loss of function in ZEB1 gene. Additional symptoms reported in the patients were: two patients had a bicornuate uterus, three had a cardiovascular anomaly and four had macrocephaly at birth.; to: PMID: 37857482 reported nine individuals from 6 unrelated families with anomalies of the corpus callosum. All reported patients had normal schooling and none of them had ID. In five cases, the variant was inherited from a parent with a normal corpus callosum, which illustrated the incomplete penetrance of anomalies of the corpus callosum in individuals with loss of function in ZEB1. Additional symptoms reported in the patients were: two patients had a bicornuate uterus, three had a cardiovascular anomaly and four had macrocephaly at birth. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.507 | ZEB1 | Suliman Khan changed review comment from: PMID: 37857482 reported nine individuals from 6 unrelated families with anomalies of the corpus callosum. All patients reported had normal schooling and none of them had ID. In five cases, the variant was inherited from a parent with a normal corpus callosum, which illustrates the incomplete penetrance of anomalies of the corpus callosum in individuals with loss of function in ZEB1. Additional symptoms reported in the patients were: two patients had a bicornuate uterus, three had a cardiovascular anomaly and four had macrocephaly at birth, which suggests a larger spectrum of malformations related to ZEB1.; to: PMID: 37857482 reported nine individuals from 6 unrelated families with anomalies of the corpus callosum. All reported patients had normal schooling and none of them had ID. In five cases, the variant was inherited from a parent with a normal corpus callosum, which illustrated the incomplete penetrance of anomalies of the corpus callosum in individuals with a loss of function in ZEB1 gene. Additional symptoms reported in the patients were: two patients had a bicornuate uterus, three had a cardiovascular anomaly and four had macrocephaly at birth. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.506 | ZEB1 | Suliman Khan edited their review of gene: ZEB1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.506 | ZEB1 | Suliman Khan edited their review of gene: ZEB1: Changed publications: PMID: 37857482; Changed phenotypes: MIM# 609141, Corpus callosum abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.506 | ZEB1 | Suliman Khan reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.244 | ZEB1 | Zornitza Stark Marked gene: ZEB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.244 | ZEB1 | Zornitza Stark Gene: zeb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.244 | ZEB1 | Zornitza Stark Phenotypes for gene: ZEB1 were changed from to Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270; Corneal dystrophy, posterior polymorphous, 3, MIM# 609141; Corpus callosum abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.243 | ZEB1 | Zornitza Stark Publications for gene: ZEB1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.242 | ZEB1 | Zornitza Stark Mode of inheritance for gene: ZEB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.241 | ZEB1 | Zornitza Stark Classified gene: ZEB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.241 | ZEB1 | Zornitza Stark Gene: zeb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.240 | ZEB1 | Zornitza Stark Tag SV/CNV tag was added to gene: ZEB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.240 | ZEB1 | Zornitza Stark reviewed gene: ZEB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24780443, 28284480, 28742278; Phenotypes: Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270, Corneal dystrophy, posterior polymorphous, 3, MIM# 609141, Corpus callosum abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.0 | ZEB1 |
Zornitza Stark gene: ZEB1 was added gene: ZEB1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZEB1 was set to Unknown |
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