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Intellectual disability syndromic and non-syndromic v1.81 H19 Zornitza Stark Tag non-coding gene tag was added to gene: H19.
Intellectual disability syndromic and non-syndromic v0.6631 PCDH19 Ain Roesley Publications for gene: PCDH19 were set to 28669061
Intellectual disability syndromic and non-syndromic v0.6630 PCDH19 Ain Roesley Marked gene: PCDH19 as ready
Intellectual disability syndromic and non-syndromic v0.6630 PCDH19 Ain Roesley Gene: pcdh19 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6630 PCDH19 Ain Roesley Phenotypes for gene: PCDH19 were changed from to Developmental and epileptic encephalopathy 9 MIM#300088
Intellectual disability syndromic and non-syndromic v0.6630 PCDH19 Ain Roesley Publications for gene: PCDH19 were set to
Intellectual disability syndromic and non-syndromic v0.6630 PCDH19 Ain Roesley Mode of inheritance for gene: PCDH19 was changed from Unknown to Other
Intellectual disability syndromic and non-syndromic v0.6629 PCDH19 Ain Roesley reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: None; Publications: 28669061; Phenotypes: Developmental and epileptic encephalopathy 9 MIM#300088; Mode of inheritance: Other; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.1298 SMARCC2 Chirag Patel gene: SMARCC2 was added
gene: SMARCC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature
Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCC2 were set to PMID: 30580808
Phenotypes for gene: SMARCC2 were set to Coffin-Siris syndrome 8; OMIM #618362
Review for gene: SMARCC2 was set to GREEN
Added comment: 15 individuals with variable degrees of neurodevelopmental delay, growth retardation, prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features. They found heterozygous de novo SMARCC2 variants, but no functional evidence of specific variants. Transcriptomic analysis of fibroblasts from affected individuals highlighted a group of differentially expressed genes with possible roles in regulation of neuronal development and function, namely H19, SCRG1, RELN, and CACNB4.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.337 H19 Zornitza Stark Marked gene: H19 as ready
Intellectual disability syndromic and non-syndromic v0.337 H19 Zornitza Stark Gene: h19 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.337 H19 Zornitza Stark Phenotypes for gene: H19 were changed from to Beckwith-Wiedemann syndrome, MIM#130650; Silver-Russell syndrome, MIM#180860
Intellectual disability syndromic and non-syndromic v0.336 H19 Zornitza Stark Classified gene: H19 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.336 H19 Zornitza Stark Gene: h19 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.335 H19 Zornitza Stark reviewed gene: H19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome, MIM#130650, Silver-Russell syndrome, MIM#180860; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.0 PCDH19 Zornitza Stark gene: PCDH19 was added
gene: PCDH19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PCDH19 was set to Unknown
Intellectual disability syndromic and non-syndromic v0.0 H19 Zornitza Stark gene: H19 was added
gene: H19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: H19 was set to Unknown