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Cobblestone Malformations v1.1 Zornitza Stark List of related panels changed from to Abnormal cortical gyration HP:0002536
Cobblestone Malformations v1.0 Zornitza Stark promoted panel to version 1.0
Cobblestone Malformations v0.31 POMT2 Zornitza Stark Marked gene: POMT2 as ready
Cobblestone Malformations v0.31 POMT2 Zornitza Stark Gene: pomt2 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.31 POMT2 Zornitza Stark Phenotypes for gene: POMT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150
Cobblestone Malformations v0.30 POMT2 Zornitza Stark Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.29 POMT2 Zornitza Stark reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.29 POMT1 Zornitza Stark Marked gene: POMT1 as ready
Cobblestone Malformations v0.29 POMT1 Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.29 POMT1 Zornitza Stark Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670
Cobblestone Malformations v0.28 POMT1 Zornitza Stark Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.27 POMT1 Zornitza Stark reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.27 POMGNT2 Zornitza Stark Marked gene: POMGNT2 as ready
Cobblestone Malformations v0.27 POMGNT2 Zornitza Stark Gene: pomgnt2 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.27 POMGNT2 Zornitza Stark Phenotypes for gene: POMGNT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830
Cobblestone Malformations v0.26 POMGNT2 Zornitza Stark Mode of inheritance for gene: POMGNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.25 POMGNT2 Zornitza Stark reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.25 POMGNT1 Zornitza Stark Marked gene: POMGNT1 as ready
Cobblestone Malformations v0.25 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.25 POMGNT1 Zornitza Stark Phenotypes for gene: POMGNT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, MIM# 253280
Cobblestone Malformations v0.24 POMGNT1 Zornitza Stark Mode of inheritance for gene: POMGNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.23 POMGNT1 Zornitza Stark reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, MIM# 253280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.23 LAMA2 Zornitza Stark Marked gene: LAMA2 as ready
Cobblestone Malformations v0.23 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.23 LAMA2 Zornitza Stark Classified gene: LAMA2 as Green List (high evidence)
Cobblestone Malformations v0.23 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.22 LAMA2 Zornitza Stark gene: LAMA2 was added
gene: LAMA2 was added to Cobblestone Malformations. Sources: Literature
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA2 were set to 32827036
Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
Review for gene: LAMA2 was set to GREEN
Added comment: Variants in this gene are associated with a range of cortical malformations in addition to the muscle phenotype. Four individuals reported with cobblestone malformations, though note in one individual MRI was normal and the abnormalities were identified on autopsy.
Sources: Literature
Cobblestone Malformations v0.21 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Cobblestone Malformations v0.21 LARGE1 Zornitza Stark Gene: large1 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.21 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154
Cobblestone Malformations v0.20 LARGE1 Zornitza Stark Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.19 LARGE1 Zornitza Stark reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.19 FKTN Zornitza Stark Marked gene: FKTN as ready
Cobblestone Malformations v0.19 FKTN Zornitza Stark Gene: fktn has been classified as Green List (High Evidence).
Cobblestone Malformations v0.19 FKTN Zornitza Stark Phenotypes for gene: FKTN were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, MIM# 253800
Cobblestone Malformations v0.18 FKTN Zornitza Stark Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.17 FKTN Zornitza Stark reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, MIM# 253800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.17 FKRP Zornitza Stark Marked gene: FKRP as ready
Cobblestone Malformations v0.17 FKRP Zornitza Stark Gene: fkrp has been classified as Green List (High Evidence).
Cobblestone Malformations v0.17 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM# 613153
Cobblestone Malformations v0.16 FKRP Zornitza Stark Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.15 FKRP Zornitza Stark reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM# 613153; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.15 LAMB1 Zornitza Stark Marked gene: LAMB1 as ready
Cobblestone Malformations v0.15 LAMB1 Zornitza Stark Gene: lamb1 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.15 LAMB1 Zornitza Stark Classified gene: LAMB1 as Green List (high evidence)
Cobblestone Malformations v0.15 LAMB1 Zornitza Stark Gene: lamb1 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.14 LAMB1 Zornitza Stark gene: LAMB1 was added
gene: LAMB1 was added to Cobblestone Malformations. Sources: Expert Review
Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB1 were set to 23472759; 25925986
Phenotypes for gene: LAMB1 were set to Lissencephaly 5, MIM# 615191
Review for gene: LAMB1 was set to GREEN
Added comment: Variants in this gene are associated with a range of brain phenotypes, but three families reported with cobblestone lissencephaly, without muscular or ocular findings.
Sources: Expert Review
Cobblestone Malformations v0.14 LAMB1 Zornitza Stark gene: LAMB1 was added
gene: LAMB1 was added to Cobblestone Malformations. Sources: Expert Review
Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB1 were set to 23472759; 25925986
Phenotypes for gene: LAMB1 were set to Lissencephaly 5, MIM# 615191
Review for gene: LAMB1 was set to GREEN
Added comment: Variants in this gene are associated with a range of brain phenotypes, but three families reported with cobblestone lissencephaly, without muscular or ocular findings.
Sources: Expert Review
Cobblestone Malformations v0.12 TMEM5 Zornitza Stark Tag new gene name tag was added to gene: TMEM5.
Cobblestone Malformations v0.12 TMEM5 Zornitza Stark commented on gene: TMEM5: New gene name is RXYLT1.
Cobblestone Malformations v0.12 TMEM5 Zornitza Stark Marked gene: TMEM5 as ready
Cobblestone Malformations v0.12 TMEM5 Zornitza Stark Gene: tmem5 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.12 TMEM5 Zornitza Stark Phenotypes for gene: TMEM5 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041
Cobblestone Malformations v0.11 TMEM5 Zornitza Stark Publications for gene: TMEM5 were set to
Cobblestone Malformations v0.10 TMEM5 Zornitza Stark Mode of inheritance for gene: TMEM5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.9 TMEM5 Zornitza Stark reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23217329, 23519211; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.9 DAG1 Zornitza Stark Marked gene: DAG1 as ready
Cobblestone Malformations v0.9 DAG1 Zornitza Stark Gene: dag1 has been classified as Red List (Low Evidence).
Cobblestone Malformations v0.9 DAG1 Zornitza Stark Classified gene: DAG1 as Red List (low evidence)
Cobblestone Malformations v0.9 DAG1 Zornitza Stark Gene: dag1 has been classified as Red List (Low Evidence).
Cobblestone Malformations v0.8 DAG1 Ain Roesley gene: DAG1 was added
gene: DAG1 was added to Cobblestone Malformations. Sources: Literature
Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAG1 were set to 29337005
Phenotypes for gene: DAG1 were set to Walker-Warburg syndrome associated with tectocerebellar dysraphia; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)
Penetrance for gene: DAG1 were set to unknown
Review for gene: DAG1 was set to RED
Added comment: PMID: 29337005;
- 1x consanguineous Israeli-Arab kindred with Walker-Warburg syndrome
- The imaging studies demonstrated: cobblestone cortex, hydrocephalus, z-shaped brainstem, and in addition occipital encephalocele, vermian agenesis, and an elongated and thick tectum (tectocerebellar dysraphia).
- homozygous frameshift
Sources: Literature
Cobblestone Malformations v0.8 TMTC3 Zornitza Stark Marked gene: TMTC3 as ready
Cobblestone Malformations v0.8 TMTC3 Zornitza Stark Gene: tmtc3 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.8 TMTC3 Zornitza Stark Phenotypes for gene: TMTC3 were changed from to Lissencephaly 8 (MIM#617255)
Cobblestone Malformations v0.7 TMTC3 Zornitza Stark Publications for gene: TMTC3 were set to
Cobblestone Malformations v0.6 TMTC3 Zornitza Stark Mode of inheritance for gene: TMTC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.5 TMTC3 Paul De Fazio changed review comment from: Associated with cobblestone lissencephaly in 6 unrelated families with biallelic variants (PMID: 27773428). Most affected individuals also showed brainstem and cerebellum hypoplasia, as well as ventriculomegaly.

In 3/4 siblings of another family (PMID: 28973161) biallelic variants were not associated with cobblestone lissencephaly, but periventricular hetertopia instead. The 4th sibling had a normal brain. Animal model studies (Drosophila and rat) support a role for this gene in neurodevelopment.; to: Associated with cobblestone lissencephaly in 6 unrelated families with biallelic variants (PMID: 27773428). Most affected individuals also showed brainstem and cerebellum hypoplasia, as well as ventriculomegaly. One individual had polymicrogyria.

In 3/4 siblings of another family (PMID: 28973161) biallelic variants were not associated with cobblestone lissencephaly, but periventricular hetertopia instead. The 4th sibling had a normal brain. Animal model studies (Drosophila and rat) support a role for this gene in neurodevelopment.
Cobblestone Malformations v0.5 TMTC3 Paul De Fazio reviewed gene: TMTC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27773428, 28973161; Phenotypes: Lissencephaly 8 (MIM#617255); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cobblestone Malformations v0.5 COL3A1 Zornitza Stark Marked gene: COL3A1 as ready
Cobblestone Malformations v0.5 COL3A1 Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.5 COL3A1 Zornitza Stark Phenotypes for gene: COL3A1 were changed from to Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, MIM # 618343
Cobblestone Malformations v0.4 COL3A1 Zornitza Stark Publications for gene: COL3A1 were set to
Cobblestone Malformations v0.3 COL3A1 Zornitza Stark Mode of inheritance for gene: COL3A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.2 COL3A1 Lauren Akesson reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28742248, 19455184, 25205403; Phenotypes: Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cobblestone Malformations v0.2 Zornitza Stark Panel name changed from Cobblestone malformations to Cobblestone Malformations
Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Rare Disease
Cobblestone Malformations v0.1 Zornitza Stark Panel name changed from Cobblestone malformations_AustralianGenomics to Cobblestone malformations
Panel types changed to Victorian Clinical Genetics Services; Australian Genomics
Cobblestone Malformations v0.0 TMTC3 Zornitza Stark gene: TMTC3 was added
gene: TMTC3 was added to Cobblestone malformations_AustralianGenomics. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TMTC3 was set to Unknown
Cobblestone Malformations v0.0 TMEM5 Zornitza Stark gene: TMEM5 was added
gene: TMEM5 was added to Cobblestone malformations_AustralianGenomics. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TMEM5 was set to Unknown
Cobblestone Malformations v0.0 POMT2 Zornitza Stark gene: POMT2 was added
gene: POMT2 was added to Cobblestone malformations_AustralianGenomics. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: POMT2 was set to Unknown
Cobblestone Malformations v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to Cobblestone malformations_AustralianGenomics. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: POMT1 was set to Unknown
Cobblestone Malformations v0.0 POMGNT2 Zornitza Stark gene: POMGNT2 was added
gene: POMGNT2 was added to Cobblestone malformations_AustralianGenomics. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: POMGNT2 was set to Unknown
Cobblestone Malformations v0.0 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to Cobblestone malformations_AustralianGenomics. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: POMGNT1 was set to Unknown
Cobblestone Malformations v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Cobblestone malformations_AustralianGenomics. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LARGE1 was set to Unknown
Cobblestone Malformations v0.0 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to Cobblestone malformations_AustralianGenomics. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FKTN was set to Unknown
Cobblestone Malformations v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Cobblestone malformations_AustralianGenomics. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FKRP was set to Unknown
Cobblestone Malformations v0.0 COL3A1 Zornitza Stark gene: COL3A1 was added
gene: COL3A1 was added to Cobblestone malformations_AustralianGenomics. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL3A1 was set to Unknown
Cobblestone Malformations v0.0 Zornitza Stark Added panel Cobblestone malformations_AustralianGenomics