| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Callosome v0.514 | PRICKLE1 | Zornitza Stark Marked gene: PRICKLE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.514 | PRICKLE1 | Zornitza Stark Gene: prickle1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.514 | PRICKLE1 | Zornitza Stark Phenotypes for gene: PRICKLE1 were changed from to Neurodevelopmental disorder, MONDO:0700092, PRICKLE1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.513 | PRICKLE1 | Zornitza Stark Publications for gene: PRICKLE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.512 | PRICKLE1 | Zornitza Stark Mode of inheritance for gene: PRICKLE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.511 | PRICKLE1 | Zornitza Stark Classified gene: PRICKLE1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.511 | PRICKLE1 | Zornitza Stark Gene: prickle1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.510 | PRICKLE1 | Zornitza Stark reviewed gene: PRICKLE1: Rating: RED; Mode of pathogenicity: None; Publications: 26727662; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, PRICKLE1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.506 | PAK1 |
Lauren Rogers changed review comment from: PMID 37820543: thick corpus callosum was present in 3/10 individuals with a severe neurodevelopmental disorder Sources: Literature; to: PMID 37820543: thick corpus callosum was present in 3/10 individuals with a severe neurodevelopmental disorder. All missense variants Sources: Literature |
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| Callosome v0.506 | PAK1 |
Lauren Rogers gene: PAK1 was added gene: PAK1 was added to Callosome. Sources: Literature Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAK1 were set to 37820543 Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158) Review for gene: PAK1 was set to GREEN Added comment: PMID 37820543: thick corpus callosum was present in 3/10 individuals with a severe neurodevelopmental disorder Sources: Literature |
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| Callosome v0.41 | MAST1 |
Zornitza Stark gene: MAST1 was added gene: MAST1 was added to Callosome_VCGS. Sources: Literature Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAST1 were set to 31721002; 30449657 Phenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; OMIM #618273 Review for gene: MAST1 was set to GREEN Added comment: 6 unrelated patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) with de novo heterozygous mutations in MAST1 gene. In vitro functional studies showed that 1 of the variants (lys276del) increased MAST1 binding to microtubules compared to controls. Mutant mice heterozygous for a Mast1 leu278del allele showed a thicker corpus callosum compared to wildtype, and an overall reduction in cortical volume and thickness and decreased cerebellar volume and number of granule and Purkinje cells due to increased apoptosis compared to controls. 1 Emirati patient with ID, microcephaly, and dysmorphic features, with missense variant in MAST1. Sources: Literature |
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| Callosome v0.0 | PRICKLE1 |
Zornitza Stark gene: PRICKLE1 was added gene: PRICKLE1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PRICKLE1 was set to Unknown |
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| Callosome v0.0 | ICK |
Zornitza Stark gene: ICK was added gene: ICK was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ICK was set to Unknown |
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