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Polymicrogyria and Schizencephaly v0.130 PEX16 Zornitza Stark Marked gene: PEX16 as ready
Polymicrogyria and Schizencephaly v0.130 PEX16 Zornitza Stark Gene: pex16 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.130 PEX16 Zornitza Stark Classified gene: PEX16 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.130 PEX16 Zornitza Stark Gene: pex16 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.129 PEX14 Zornitza Stark Marked gene: PEX14 as ready
Polymicrogyria and Schizencephaly v0.129 PEX14 Zornitza Stark Gene: pex14 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.129 PEX14 Zornitza Stark Classified gene: PEX14 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.129 PEX14 Zornitza Stark Gene: pex14 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.128 PEX13 Zornitza Stark Marked gene: PEX13 as ready
Polymicrogyria and Schizencephaly v0.128 PEX13 Zornitza Stark Gene: pex13 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.128 PEX13 Zornitza Stark Classified gene: PEX13 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.128 PEX13 Zornitza Stark Gene: pex13 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.127 PEX12 Zornitza Stark Marked gene: PEX12 as ready
Polymicrogyria and Schizencephaly v0.127 PEX12 Zornitza Stark Gene: pex12 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.127 PEX12 Zornitza Stark Classified gene: PEX12 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.127 PEX12 Zornitza Stark Gene: pex12 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.126 PEX19 Zornitza Stark Marked gene: PEX19 as ready
Polymicrogyria and Schizencephaly v0.126 PEX19 Zornitza Stark Gene: pex19 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.126 PEX19 Zornitza Stark Classified gene: PEX19 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.126 PEX19 Zornitza Stark Gene: pex19 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.125 PEX13 Ain Roesley gene: PEX13 was added
gene: PEX13 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX13 were set to 21031596; 19449432
Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883)
Penetrance for gene: PEX13 were set to unknown
Review for gene: PEX13 was set to AMBER
Added comment: Accounts for ~1.5% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature

PMID: 19449432;
- 1x ZSD proband with PMG
Sources: Literature
Polymicrogyria and Schizencephaly v0.125 PEX14 Paul De Fazio gene: PEX14 was added
gene: PEX14 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX14 were set to 21031596; 18285423; 15146459; 30224891
Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876
Review for gene: PEX14 was set to AMBER
gene: PEX14 was marked as current diagnostic
Added comment: Accounts for ~0.5% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). At least 3 independent patients have been reported with a homozygous nonsense variant, a rare missense variant, and a whole-exon deletion (PMID: 18285423, 15146459, 30224891) so gene-disease association is established.

Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber.
Sources: Literature
Polymicrogyria and Schizencephaly v0.125 PEX12 Ain Roesley gene: PEX12 was added
gene: PEX12 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX12 were set to 21031596
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859)
Penetrance for gene: PEX12 were set to unknown
Review for gene: PEX12 was set to AMBER
Added comment: Accounts for ~7.6% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature
Sources: Literature
Polymicrogyria and Schizencephaly v0.125 PEX11B Zornitza Stark Marked gene: PEX11B as ready
Polymicrogyria and Schizencephaly v0.125 PEX11B Zornitza Stark Gene: pex11b has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.125 PEX16 Paul De Fazio gene: PEX16 was added
gene: PEX16 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX16 were set to 21031596
Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876
Review for gene: PEX16 was set to AMBER
gene: PEX16 was marked as current diagnostic
Added comment: Accounts for ~1.1% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber.
Sources: Literature
Polymicrogyria and Schizencephaly v0.125 PEX11B Zornitza Stark Classified gene: PEX11B as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.125 PEX11B Zornitza Stark Gene: pex11b has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.124 PEX10 Zornitza Stark Marked gene: PEX10 as ready
Polymicrogyria and Schizencephaly v0.124 PEX10 Zornitza Stark Gene: pex10 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.124 PEX10 Zornitza Stark Classified gene: PEX10 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.124 PEX10 Zornitza Stark Gene: pex10 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.121 PEX19 Paul De Fazio gene: PEX19 was added
gene: PEX19 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX19 were set to 21031596
Phenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886
Review for gene: PEX19 was set to AMBER
gene: PEX19 was marked as current diagnostic
Added comment: Accounts for ~0.6% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber.
Sources: Literature
Polymicrogyria and Schizencephaly v0.120 PEX11B Ain Roesley gene: PEX11B was added
gene: PEX11B was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX11B were set to 22581968
Phenotypes for gene: PEX11B were set to ?Peroxisome biogenesis disorder 14B (MIM#614920)
Penetrance for gene: PEX11B were set to unknown
Review for gene: PEX11B was set to RED
Added comment: Accounts for ~0.1% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature

PMID: 22581968;
Sinlge patient reported
Sources: Literature
Polymicrogyria and Schizencephaly v0.120 PEX10 Ain Roesley gene: PEX10 was added
gene: PEX10 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX10 were set to 21031596
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870)
Penetrance for gene: PEX10 were set to unknown
Review for gene: PEX10 was set to AMBER
Added comment: Accounts for ~3.4% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature
Sources: Literature
Polymicrogyria and Schizencephaly v0.120 PEX1 Zornitza Stark Marked gene: PEX1 as ready
Polymicrogyria and Schizencephaly v0.120 PEX1 Zornitza Stark Gene: pex1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.120 PEX1 Zornitza Stark Classified gene: PEX1 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.120 PEX1 Zornitza Stark Gene: pex1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.118 PEX1 Ain Roesley gene: PEX1 was added
gene: PEX1 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX1 were set to 21031596
Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger) (MIM#214100)
Penetrance for gene: PEX1 were set to unknown
Review for gene: PEX1 was set to GREEN
Added comment: Accounts for ~60.5% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature
Sources: Literature