| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Lissencephaly and Band Heterotopia v0.34 | B4GAT1 | Zornitza Stark Marked gene: B4GAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.34 | B4GAT1 | Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.34 | B4GAT1 | Zornitza Stark Publications for gene: B4GAT1 were set to 23359570; 23877401 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.34 | B4GAT1 | Zornitza Stark Classified gene: B4GAT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.34 | B4GAT1 | Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.33 | B4GAT1 | Zornitza Stark reviewed gene: B4GAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23359570, 23877401, 23359570, 23217742; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.33 | B4GAT1 | Zornitza Stark Phenotypes for gene: B4GAT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.32 | B4GAT1 | Zornitza Stark Publications for gene: B4GAT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.31 | B4GAT1 | Zornitza Stark Mode of inheritance for gene: B4GAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.30 | B4GAT1 | Zornitza Stark Classified gene: B4GAT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.30 | B4GAT1 | Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.29 | B4GAT1 |
Lauren Akesson changed review comment from: Two families with variants in this gene have been described with insufficient information to be green: PMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested. PMID 23877401 - seven affected children from a consanguineous extended family (two arms of the family). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual only received genetic testing with a homozygous frameshift variant in B4GAT1.; to: Two families with variants in this gene have been described with insufficient evidence to be green: PMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested. PMID 23877401 - seven affected children from a consanguineous extended family (two arms of the family). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual only received genetic testing with a homozygous frameshift variant in B4GAT1. |
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| Lissencephaly and Band Heterotopia v0.29 | B4GAT1 |
Lauren Akesson changed review comment from: Two families with variants in this gene have been described with insufficient information to be green: PMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested. PMID 23877401 - seven affected siblings from a consanguineous family (two arms). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual was tested with a homozygous frameshift variant in B4GAT1.; to: Two families with variants in this gene have been described with insufficient information to be green: PMID 23359570 - four affected siblings (three pregnancies terminated) from a non-consanguineous family. Brain findings included diffuse, severe and extensive leptominingeal neuroepithelial heterotopia, cerebellar dysplasia/hypoplasia, brainstem hypoplasia, lissencephaly, corpus callosum abnormalities. Three of the four probands were genotyped and found to have two homozygous missense variants in B4GAT1. Parents were each heterozygous for both variants. Three siblings were unaffected of which one was heterozygous for both variants and the other two untested. PMID 23877401 - seven affected children from a consanguineous extended family (two arms of the family). Features include occipital encephalocele, anencephaly, cloudy cornea, proptotic eyes, spastic posture and micropenis; multicystic kidney, hydrocephalus, developmental delay, seizures, agenesis of the optic nerve. One individual only received genetic testing with a homozygous frameshift variant in B4GAT1. |
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| Lissencephaly and Band Heterotopia v0.29 | B4GAT1 | Lauren Akesson reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 23359570, 23877401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.0 | B4GAT1 |
Zornitza Stark gene: B4GAT1 was added gene: B4GAT1 was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: B4GAT1 was set to Unknown |
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