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Fetal anomalies v0.4273 COLGALT1 Zornitza Stark Marked gene: COLGALT1 as ready
Fetal anomalies v0.4273 COLGALT1 Zornitza Stark Gene: colgalt1 has been classified as Green List (High Evidence).
Fetal anomalies v0.4273 COLGALT1 Zornitza Stark Phenotypes for gene: COLGALT1 were changed from to Brain small vessel disease 3, MIM# 618360
Fetal anomalies v0.4272 COLGALT1 Zornitza Stark Publications for gene: COLGALT1 were set to
Fetal anomalies v0.4271 COLGALT1 Zornitza Stark edited their review of gene: COLGALT1: Changed publications: 30412317, 33709034, 31759980
Fetal anomalies v0.4271 COLGALT1 Zornitza Stark commented on gene: COLGALT1: 3 unrelated cases with biallelic variants, and supporting functional assays. The main features of the cases were porencephalic cysts, leukoencephalopathy, lacunar infarcts, cerebral microbleeds/haemorrhages and calcifications. A null mouse model was embryonic lethal, but had defects in the vascular networks of the embryos.
Fetal anomalies v0.4271 COLGALT1 Zornitza Stark Classified gene: COLGALT1 as Green List (high evidence)
Fetal anomalies v0.4271 COLGALT1 Zornitza Stark Gene: colgalt1 has been classified as Green List (High Evidence).
Fetal anomalies v0.4270 COLGALT1 Zornitza Stark reviewed gene: COLGALT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease 3, MIM# 618360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.4256 COLGALT1 Chloe Stutterd gene: COLGALT1 was added
gene: COLGALT1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: COLGALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Added comment: Antenatal features: porencephalic cyst, calcifications
Sources: Literature
Fetal anomalies v0.3652 GALT Zornitza Stark Marked gene: GALT as ready
Fetal anomalies v0.3652 GALT Zornitza Stark Gene: galt has been classified as Red List (Low Evidence).
Fetal anomalies v0.3652 GALT Zornitza Stark Phenotypes for gene: GALT were changed from GALACTOSEMIA to Galactosaemia, MIM#230400
Fetal anomalies v0.3651 GALT Zornitza Stark changed review comment from: Clinical presentation is typically postnatal.; to: Clinical presentation is typically postnatal.
Fetal anomalies v0.3651 GALT Zornitza Stark changed review comment from: Most cases should be detected by newborn screening where available, but ID is part of the phenotype.; to: Clinical presentation is typically postnatal.
Fetal anomalies v0.3651 GALT Zornitza Stark edited their review of gene: GALT: Changed phenotypes: Galactosaemia, MIM#230400
Fetal anomalies v0.3651 GALT Zornitza Stark edited their review of gene: GALT: Changed rating: RED
Fetal anomalies v0.280 B4GALT7 Zornitza Stark Marked gene: B4GALT7 as ready
Fetal anomalies v0.280 B4GALT7 Zornitza Stark Gene: b4galt7 has been classified as Green List (High Evidence).
Fetal anomalies v0.280 B4GALT7 Zornitza Stark Phenotypes for gene: B4GALT7 were changed from EHLERS-DANLOS SYNDROME PROGEROID TYPE to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070
Fetal anomalies v0.279 B4GALT7 Zornitza Stark Publications for gene: B4GALT7 were set to
Fetal anomalies v0.278 B4GALT7 Zornitza Stark edited their review of gene: B4GALT7: Changed rating: GREEN
Fetal anomalies v0.275 B3GALT6 Zornitza Stark Marked gene: B3GALT6 as ready
Fetal anomalies v0.275 B3GALT6 Zornitza Stark Gene: b3galt6 has been classified as Green List (High Evidence).
Fetal anomalies v0.275 B3GALT6 Zornitza Stark Phenotypes for gene: B3GALT6 were changed from SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1; EHLERS-DANLOS SYNDROME to Al-Gazali syndrome, MIM# 609465; Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640
Fetal anomalies v0.274 B3GALT6 Zornitza Stark Publications for gene: B3GALT6 were set to
Fetal anomalies v0.273 B3GALT6 Zornitza Stark edited their review of gene: B3GALT6: Changed publications: 23664117, 29931299, 29443383
Fetal anomalies v0.273 B3GALT6 Zornitza Stark edited their review of gene: B3GALT6: Changed phenotypes: Al-Gazali syndrome, MIM# 609465, Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640
Fetal anomalies v0.273 B3GALT6 Zornitza Stark edited their review of gene: B3GALT6: Changed rating: GREEN
Fetal anomalies v0.0 GALT Zornitza Stark gene: GALT was added
gene: GALT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALT were set to GALACTOSEMIA
Fetal anomalies v0.0 B4GALT7 Zornitza Stark gene: B4GALT7 was added
gene: B4GALT7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALT7 were set to EHLERS-DANLOS SYNDROME PROGEROID TYPE
Fetal anomalies v0.0 B3GALT6 Zornitza Stark gene: B3GALT6 was added
gene: B3GALT6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GALT6 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1; EHLERS-DANLOS SYNDROME