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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