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Periventricular Grey Matter Heterotopia v2.0 TMTC3 Gene migrated from ENSG00000139324 to ENSG00000139324 (gene set migration)
Periventricular Grey Matter Heterotopia v2.0 ERMARD Gene migrated from ENSG00000130023 to ENSG00000130023 (gene set migration)
Periventricular Grey Matter Heterotopia v2.0 SYNCRIP Gene migrated from ENSG00000135316 to ENSG00000135316 (gene set migration)
Periventricular Grey Matter Heterotopia v2.0 FAT4 Gene migrated from ENSG00000196159 to ENSG00000196159 (gene set migration)
Periventricular Grey Matter Heterotopia v2.0 KAT6B Gene migrated from ENSG00000156650 to ENSG00000156650 (gene set migration)
Periventricular Grey Matter Heterotopia v2.0 DENR Gene migrated from ENSG00000139726 to ENSG00000139726 (gene set migration)
Periventricular Grey Matter Heterotopia v2.0 HNRNPK Gene migrated from ENSG00000165119 to ENSG00000165119 (gene set migration)
Periventricular Grey Matter Heterotopia v2.0 ARFGEF2 Gene migrated from ENSG00000124198 to ENSG00000124198 (gene set migration)
Periventricular Grey Matter Heterotopia v2.0 NEDD4L Gene migrated from ENSG00000049759 to ENSG00000049759 (gene set migration)
Periventricular Grey Matter Heterotopia v2.0 MAP1B Gene migrated from ENSG00000131711 to ENSG00000131711 (gene set migration)
Periventricular Grey Matter Heterotopia v2.0 ARF1 Gene migrated from ENSG00000143761 to ENSG00000143761 (gene set migration)
Periventricular Grey Matter Heterotopia v2.0 FLNA Gene migrated from ENSG00000196924 to ENSG00000196924 (gene set migration)
Periventricular Grey Matter Heterotopia v2.0 DCHS1 Gene migrated from ENSG00000166341 to ENSG00000166341 (gene set migration)
Periventricular Grey Matter Heterotopia v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.3
Periventricular Grey Matter Heterotopia v1.3 DENR Zornitza Stark Marked gene: DENR as ready
Periventricular Grey Matter Heterotopia v1.3 DENR Zornitza Stark Gene: denr has been classified as Amber List (Moderate Evidence).
Periventricular Grey Matter Heterotopia v1.3 Zornitza Stark Copied gene DENR from panel Mendeliome
Periventricular Grey Matter Heterotopia v1.3 DENR Zornitza Stark gene: DENR was added
gene: DENR was added to Periventricular Grey Matter Heterotopia. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: DENR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DENR were set to 27239039
Phenotypes for gene: DENR were set to Neurodevelopmental disorder, MONDO:0700092, DENR-related
Periventricular Grey Matter Heterotopia v1.2 Zornitza Stark HPO terms changed from to Grey matter heterotopia, HP:0002282
List of related panels changed from to Grey matter heterotopia; HP:0002282
Periventricular Grey Matter Heterotopia v1.1 ARF1 Daniel Flanagan reviewed gene: ARF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36345169; Phenotypes: Periventricular nodular heterotopia 8 (MIM#618185); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Periventricular Grey Matter Heterotopia v1.1 HNRNPK Zornitza Stark Marked gene: HNRNPK as ready
Periventricular Grey Matter Heterotopia v1.1 HNRNPK Zornitza Stark Gene: hnrnpk has been classified as Green List (High Evidence).
Periventricular Grey Matter Heterotopia v1.1 HNRNPK Zornitza Stark Classified gene: HNRNPK as Green List (high evidence)
Periventricular Grey Matter Heterotopia v1.1 HNRNPK Zornitza Stark Gene: hnrnpk has been classified as Green List (High Evidence).
Periventricular Grey Matter Heterotopia v1.0 HNRNPK Ain Roesley gene: HNRNPK was added
gene: HNRNPK was added to Periventricular Grey Matter Heterotopia. Sources: Literature
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNRNPK were set to Au-Kline syndrome MIM#616580
Penetrance for gene: HNRNPK were set to Complete
Review for gene: HNRNPK was set to GREEN
gene: HNRNPK was marked as current diagnostic
Added comment: Caused by de novo variants.

Review of >20 individuals in GeneReviews:
- Brain anomalies have been identified in several individuals. The most common abnormalities were heterotopia and thinning of the corpus callosum.
- Congenital heart disease is present in approximately 75% of individuals with AKS
- Hydronephrosis is present in up to 75% of individuals
- Craniosynostosis is present in approximately 1/3 of individuals with AKS.
- More than half of individuals with AKS have scoliosis and congenital hip dysplasia
- Palate abnormalities, which include cleft palate, high-arched or narrow palate, and bifid uvula, are common.
Sources: Literature
Periventricular Grey Matter Heterotopia v1.0 Zornitza Stark promoted panel to version 1.0
Periventricular Grey Matter Heterotopia v0.30 SYNCRIP Zornitza Stark Marked gene: SYNCRIP as ready
Periventricular Grey Matter Heterotopia v0.30 SYNCRIP Zornitza Stark Gene: syncrip has been classified as Red List (Low Evidence).
Periventricular Grey Matter Heterotopia v0.30 SYNCRIP Zornitza Stark gene: SYNCRIP was added
gene: SYNCRIP was added to Periventricular Grey Matter Heterotopia. Sources: Literature
Mode of inheritance for gene: SYNCRIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SYNCRIP were set to 34157790
Phenotypes for gene: SYNCRIP were set to SYNCRIP-related neurodevelopmental disorder
Review for gene: SYNCRIP was set to RED
Added comment: One of 8 individuals reported so far had PVNH.
Sources: Literature
Periventricular Grey Matter Heterotopia v0.29 NEDD4L Zornitza Stark Marked gene: NEDD4L as ready
Periventricular Grey Matter Heterotopia v0.29 NEDD4L Zornitza Stark Gene: nedd4l has been classified as Green List (High Evidence).
Periventricular Grey Matter Heterotopia v0.29 NEDD4L Zornitza Stark Phenotypes for gene: NEDD4L were changed from to Periventricular nodular heterotopia 7, MIM# 617201
Periventricular Grey Matter Heterotopia v0.28 NEDD4L Zornitza Stark Publications for gene: NEDD4L were set to
Periventricular Grey Matter Heterotopia v0.27 NEDD4L Zornitza Stark Mode of inheritance for gene: NEDD4L was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Periventricular Grey Matter Heterotopia v0.27 NEDD4L Zornitza Stark Mode of inheritance for gene: NEDD4L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Periventricular Grey Matter Heterotopia v0.26 NEDD4L Zornitza Stark reviewed gene: NEDD4L: Rating: GREEN; Mode of pathogenicity: None; Publications: 34087865, 27694961, 32117442; Phenotypes: Periventricular nodular heterotopia 7, MIM# 617201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Periventricular Grey Matter Heterotopia v0.26 FLNA Zornitza Stark Marked gene: FLNA as ready
Periventricular Grey Matter Heterotopia v0.26 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Periventricular Grey Matter Heterotopia v0.26 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from to Heterotopia, periventricular, 1 , MIM#300049
Periventricular Grey Matter Heterotopia v0.25 FLNA Zornitza Stark Publications for gene: FLNA were set to
Periventricular Grey Matter Heterotopia v0.24 FLNA Zornitza Stark Mode of inheritance for gene: FLNA was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Periventricular Grey Matter Heterotopia v0.23 FLNA Zornitza Stark reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 9883725, 15668422, 15994863; Phenotypes: Heterotopia, periventricular, 1 , MIM#300049; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Periventricular Grey Matter Heterotopia v0.22 DCHS1 Zornitza Stark Marked gene: DCHS1 as ready
Periventricular Grey Matter Heterotopia v0.22 DCHS1 Zornitza Stark Gene: dchs1 has been classified as Green List (High Evidence).
Periventricular Grey Matter Heterotopia v0.22 DCHS1 Zornitza Stark Phenotypes for gene: DCHS1 were changed from to Van Maldergem syndrome 1, MIM# 601390
Periventricular Grey Matter Heterotopia v0.21 DCHS1 Zornitza Stark Publications for gene: DCHS1 were set to
Periventricular Grey Matter Heterotopia v0.20 DCHS1 Zornitza Stark Mode of inheritance for gene: DCHS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Periventricular Grey Matter Heterotopia v0.19 DCHS1 Zornitza Stark reviewed gene: DCHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24056717, 29046692; Phenotypes: Van Maldergem syndrome 1, MIM# 601390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Periventricular Grey Matter Heterotopia v0.19 ARF1 Zornitza Stark changed review comment from: Additional reported of affected parent and child.; to: Additional report of affected parent and child.
Periventricular Grey Matter Heterotopia v0.19 ARF1 Zornitza Stark commented on gene: ARF1: Additional reported of affected parent and child.
Periventricular Grey Matter Heterotopia v0.19 ARF1 Zornitza Stark edited their review of gene: ARF1: Changed publications: 28868155, 34353862; Changed phenotypes: Periventricular nodular heterotopia 8, MIM# 618185
Periventricular Grey Matter Heterotopia v0.19 KAT6B Zornitza Stark Marked gene: KAT6B as ready
Periventricular Grey Matter Heterotopia v0.19 KAT6B Zornitza Stark Gene: kat6b has been classified as Amber List (Moderate Evidence).
Periventricular Grey Matter Heterotopia v0.19 KAT6B Zornitza Stark Classified gene: KAT6B as Amber List (moderate evidence)
Periventricular Grey Matter Heterotopia v0.19 KAT6B Zornitza Stark Gene: kat6b has been classified as Amber List (Moderate Evidence).
Periventricular Grey Matter Heterotopia v0.18 KAT6B Konstantinos Varvagiannis gene: KAT6B was added
gene: KAT6B was added to Periventricular Grey Matter Heterotopia. Sources: Literature
Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT6B were set to 32424177; 23236640
Phenotypes for gene: KAT6B were set to SBBYSS syndrome MIM #603736; Genitopatellar syndrome MIM #606170
Penetrance for gene: KAT6B were set to Complete
Review for gene: KAT6B was set to AMBER
Added comment: Zhang et al (2020 - PMID: 32424177) provide a review of the KAT6B-related phenotypes based on unpublished as well as previously reported patients. Grey matter heterotopia was observed in three individuals.

According to GeneReviews (PMID : 23236640) : Most GPS-associated pathogenic variants cluster in KAT6B exon 18, the last exon, and are predicted to produce truncated proteins associated with a gain-of-function mechanism. SBBYS-causing pathogenic variants also occur most frequently in exon 18, but more distally than the GPS-associated variants. Predicted loss-of-function variants in exons 3, 7, 11, and 14-17 were reported to be associated with the SBBYSS phenotype.

Please consider inclusion in the current panel with amber or green rating.
Sources: Literature
Periventricular Grey Matter Heterotopia v0.18 FAT4 Zornitza Stark Marked gene: FAT4 as ready
Periventricular Grey Matter Heterotopia v0.18 FAT4 Zornitza Stark Gene: fat4 has been classified as Amber List (Moderate Evidence).
Periventricular Grey Matter Heterotopia v0.18 FAT4 Zornitza Stark Phenotypes for gene: FAT4 were changed from to Van Maldergem syndrome 2, MIM# 615546
Periventricular Grey Matter Heterotopia v0.17 FAT4 Zornitza Stark Publications for gene: FAT4 were set to
Periventricular Grey Matter Heterotopia v0.16 FAT4 Zornitza Stark Mode of inheritance for gene: FAT4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Periventricular Grey Matter Heterotopia v0.15 FAT4 Zornitza Stark Classified gene: FAT4 as Amber List (moderate evidence)
Periventricular Grey Matter Heterotopia v0.15 FAT4 Zornitza Stark Gene: fat4 has been classified as Amber List (Moderate Evidence).
Periventricular Grey Matter Heterotopia v0.14 FAT4 Zornitza Stark reviewed gene: FAT4: Rating: AMBER; Mode of pathogenicity: None; Publications: 22473091, 24056717; Phenotypes: Van Maldergem syndrome 2, MIM# 615546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Periventricular Grey Matter Heterotopia v0.14 TMTC3 Zornitza Stark Marked gene: TMTC3 as ready
Periventricular Grey Matter Heterotopia v0.14 TMTC3 Zornitza Stark Gene: tmtc3 has been classified as Red List (Low Evidence).
Periventricular Grey Matter Heterotopia v0.14 TMTC3 Zornitza Stark Classified gene: TMTC3 as Red List (low evidence)
Periventricular Grey Matter Heterotopia v0.14 TMTC3 Zornitza Stark Gene: tmtc3 has been classified as Red List (Low Evidence).
Periventricular Grey Matter Heterotopia v0.13 ARFGEF2 Zornitza Stark Marked gene: ARFGEF2 as ready
Periventricular Grey Matter Heterotopia v0.13 ARFGEF2 Zornitza Stark Gene: arfgef2 has been classified as Green List (High Evidence).
Periventricular Grey Matter Heterotopia v0.13 ARFGEF2 Zornitza Stark Phenotypes for gene: ARFGEF2 were changed from to Periventricular heterotopia with microcephaly (MIM#608097)
Periventricular Grey Matter Heterotopia v0.12 ARFGEF2 Zornitza Stark Publications for gene: ARFGEF2 were set to
Periventricular Grey Matter Heterotopia v0.11 ARFGEF2 Zornitza Stark Mode of inheritance for gene: ARFGEF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Periventricular Grey Matter Heterotopia v0.10 TMTC3 Paul De Fazio changed review comment from: Mostly associated with cobblestone lissencephaly in (6 unrelated families with biallelic variants, PMID: 27773428).

However 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.

Although I thought it worth having this gene on this panel I have rated it Red as it is a single family reported with this phenotype, with not all members affected, and it is a different phenotype to that reported previously (i.e. very much 'low evidence').
Sources: Literature; to: Mostly associated with cobblestone lissencephaly in (6 unrelated families with biallelic variants, PMID: 27773428).

However in 3/4 siblings of another family (PMID: 28973161) biallelic variants were not associated with cobblestone lissencephaly, but periventricular heterotopia instead. The 4th sibling had a normal brain. Animal model studies (Drosophila and rat) support a role for this gene in neurodevelopment.

Although I thought it worth having this gene on this panel I have rated it Red as it is a single family reported with this phenotype, with not all members affected, and it is a different phenotype to that reported previously (i.e. very much 'low evidence').
Sources: Literature
Periventricular Grey Matter Heterotopia v0.10 TMTC3 Paul De Fazio gene: TMTC3 was added
gene: TMTC3 was added to Periventricular Grey Matter Heterotopia. Sources: Literature
Mode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMTC3 were set to 27773428; 28973161
Phenotypes for gene: TMTC3 were set to Lissencephaly 8 (MIM#617255)
Review for gene: TMTC3 was set to RED
gene: TMTC3 was marked as current diagnostic
Added comment: Mostly associated with cobblestone lissencephaly in (6 unrelated families with biallelic variants, PMID: 27773428).

However 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.

Although I thought it worth having this gene on this panel I have rated it Red as it is a single family reported with this phenotype, with not all members affected, and it is a different phenotype to that reported previously (i.e. very much 'low evidence').
Sources: Literature
Periventricular Grey Matter Heterotopia v0.10 ARFGEF2 Ain Roesley reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25160555, 26126837, 23812912; Phenotypes: Periventricular heterotopia with microcephaly (MIM#608097); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Periventricular Grey Matter Heterotopia v0.10 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Periventricular Grey Matter Heterotopia v0.9 ARF1 Zornitza Stark Marked gene: ARF1 as ready
Periventricular Grey Matter Heterotopia v0.9 ARF1 Zornitza Stark Gene: arf1 has been classified as Green List (High Evidence).
Periventricular Grey Matter Heterotopia v0.9 ARF1 Zornitza Stark Classified gene: ARF1 as Green List (high evidence)
Periventricular Grey Matter Heterotopia v0.9 ARF1 Zornitza Stark Gene: arf1 has been classified as Green List (High Evidence).
Periventricular Grey Matter Heterotopia v0.8 ARF1 Zornitza Stark gene: ARF1 was added
gene: ARF1 was added to Periventricular Grey Matter Heterotopia. Sources: Expert list
Mode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARF1 were set to 28868155
Phenotypes for gene: ARF1 were set to Periventricular nodular heterotopia 8, MIM# 618185
Review for gene: ARF1 was set to GREEN
Added comment: Three unrelated individuals reported with de novo missense in this gene.
Sources: Expert list
Periventricular Grey Matter Heterotopia v0.7 MAP1B Zornitza Stark Marked gene: MAP1B as ready
Periventricular Grey Matter Heterotopia v0.7 MAP1B Zornitza Stark Gene: map1b has been classified as Green List (High Evidence).
Periventricular Grey Matter Heterotopia v0.7 MAP1B Zornitza Stark Phenotypes for gene: MAP1B were changed from to Intellectual disability; seizures; PVNH; dysmorphic features; Periventricular nodular heterotopia 9, MIM# 618918
Periventricular Grey Matter Heterotopia v0.6 MAP1B Zornitza Stark Publications for gene: MAP1B were set to
Periventricular Grey Matter Heterotopia v0.5 MAP1B Zornitza Stark Mode of inheritance for gene: MAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Periventricular Grey Matter Heterotopia v0.4 MAP1B Zornitza Stark edited their review of gene: MAP1B: Changed phenotypes: Intellectual disability, seizures, PVNH, dysmorphic features, Periventricular nodular heterotopia 9, MIM# 618918
Periventricular Grey Matter Heterotopia v0.4 Zornitza Stark Panel name changed from Periventricular grey matter heterotopia_AustralianGenomics_VCGS to Periventricular Grey Matter Heterotopia
Panel types changed to Victorian Clinical Genetics Services
Periventricular Grey Matter Heterotopia v0.3 ERMARD Zornitza Stark Marked gene: ERMARD as ready
Periventricular Grey Matter Heterotopia v0.3 ERMARD Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence).
Periventricular Grey Matter Heterotopia v0.3 ERMARD Zornitza Stark Phenotypes for gene: ERMARD were changed from to Periventricular nodular heterotopia 6, MIM#615544
Periventricular Grey Matter Heterotopia v0.3 ERMARD Zornitza Stark Classified gene: ERMARD as Red List (low evidence)
Periventricular Grey Matter Heterotopia v0.3 ERMARD Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence).
Periventricular Grey Matter Heterotopia v0.2 ERMARD Zornitza Stark Publications for gene: ERMARD were set to
Periventricular Grey Matter Heterotopia v0.2 ERMARD Zornitza Stark Mode of inheritance for gene: ERMARD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Periventricular Grey Matter Heterotopia v0.2 ERMARD Zornitza Stark Classified gene: ERMARD as Red List (low evidence)
Periventricular Grey Matter Heterotopia v0.2 ERMARD Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence).
Periventricular Grey Matter Heterotopia v0.1 ERMARD Zornitza Stark reviewed gene: ERMARD: Rating: RED; Mode of pathogenicity: None; Publications: 24056535, 27087860; Phenotypes: Periventricular nodular heterotopia 6, MIM#615544; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Periventricular Grey Matter Heterotopia v0.0 NEDD4L Zornitza Stark gene: NEDD4L was added
gene: NEDD4L was added to Periventricular grey matter heterotopia_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Australian Genomics Health Alliance Brain Malformation Flagship
Mode of inheritance for gene: NEDD4L was set to Unknown
Periventricular Grey Matter Heterotopia v0.0 MAP1B Zornitza Stark gene: MAP1B was added
gene: MAP1B was added to Periventricular grey matter heterotopia_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Australian Genomics Health Alliance Brain Malformation Flagship
Mode of inheritance for gene: MAP1B was set to Unknown
Periventricular Grey Matter Heterotopia v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Periventricular grey matter heterotopia_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Australian Genomics Health Alliance Brain Malformation Flagship
Mode of inheritance for gene: FLNA was set to Unknown
Periventricular Grey Matter Heterotopia v0.0 FAT4 Zornitza Stark gene: FAT4 was added
gene: FAT4 was added to Periventricular grey matter heterotopia_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Australian Genomics Health Alliance Brain Malformation Flagship
Mode of inheritance for gene: FAT4 was set to Unknown
Periventricular Grey Matter Heterotopia v0.0 ERMARD Zornitza Stark gene: ERMARD was added
gene: ERMARD was added to Periventricular grey matter heterotopia_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Australian Genomics Health Alliance Brain Malformation Flagship
Mode of inheritance for gene: ERMARD was set to Unknown
Periventricular Grey Matter Heterotopia v0.0 DCHS1 Zornitza Stark gene: DCHS1 was added
gene: DCHS1 was added to Periventricular grey matter heterotopia_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Australian Genomics Health Alliance Brain Malformation Flagship
Mode of inheritance for gene: DCHS1 was set to Unknown
Periventricular Grey Matter Heterotopia v0.0 ARFGEF2 Zornitza Stark gene: ARFGEF2 was added
gene: ARFGEF2 was added to Periventricular grey matter heterotopia_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Australian Genomics Health Alliance Brain Malformation Flagship
Mode of inheritance for gene: ARFGEF2 was set to Unknown
Periventricular Grey Matter Heterotopia v0.0 Zornitza Stark Added panel Periventricular grey matter heterotopia_AustralianGenomics_VCGS