Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Intellectual disability syndromic and non-syndromic v0.1503 SNRPA Zornitza Stark Marked gene: SNRPA as ready
Intellectual disability syndromic and non-syndromic v0.1503 SNRPA Zornitza Stark Gene: snrpa has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1221 SNRPA Chirag Patel Classified gene: SNRPA as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.1221 SNRPA Chirag Patel Gene: snrpa has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.1220 SNRPA Chirag Patel Source Genetic Health Queensland was removed from SNRPA.
Source Expert list was added to SNRPA.
Mode of inheritance for gene SNRPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNRPA were changed from to no OMIM # yet
Publications for gene SNRPA were changed from PMID: 29437235 to PMID: 29437235
Intellectual disability syndromic and non-syndromic v0.1219 SNRPA Chirag Patel reviewed gene: SNRPA: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29437235; Phenotypes: no OMIM number yet; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 SNRPA Zornitza Stark gene: SNRPA was added
gene: SNRPA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SNRPA was set to Unknown