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Date	Panel	Item	Activity
Filter activities 22 actions
15 Sep 2026	Mendeliome v2.598	RAI1_FAME8_TTTCA	Zornitza Stark Marked STR: RAI1_FAME8_TTTCA as ready
15 Sep 2026	Mendeliome v2.598	RAI1_FAME8_TTTCA	Zornitza Stark Str: rai1_fame8_tttca has been classified as Red List (Low Evidence).
15 Sep 2026	Mendeliome v2.598		Zornitza Stark Copied STR RAI1_FAME8_TTTCA from panel Repeat Disorders
15 Sep 2026	Mendeliome v2.598	RAI1_FAME8_TTTCA	Zornitza Stark STR: RAI1_FAME8_TTTCA was added STR: RAI1_FAME8_TTTCA was added to Mendeliome. Sources: Expert Review Red,Literature Mode of inheritance for STR: RAI1_FAME8_TTTCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: RAI1_FAME8_TTTCA were set to 37994247 Phenotypes for STR: RAI1_FAME8_TTTCA were set to benign adult familial myoclonic epilepsy MONDO:0019448
07 Jun 2026	Mendeliome v2.0	RAI1	Gene migrated from ENSG00000108557 to ENSG00000108557 (gene set migration)
18 Aug 2020	Mendeliome v0.3838	RAI1	Zornitza Stark Marked gene: RAI1 as ready
18 Aug 2020	Mendeliome v0.3838	RAI1	Zornitza Stark Gene: rai1 has been classified as Green List (High Evidence).
18 Aug 2020	Mendeliome v0.3838	RAI1	Zornitza Stark Phenotypes for gene: RAI1 were changed from to Smith-Magenis syndrome (MIM#182290)
18 Aug 2020	Mendeliome v0.3837	RAI1	Zornitza Stark Publications for gene: RAI1 were set to
18 Aug 2020	Mendeliome v0.3836	RAI1	Zornitza Stark Mode of inheritance for gene: RAI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Aug 2020	Mendeliome v0.3835	RAI1	Kristin Rigbye reviewed gene: RAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 11404004, 12652298, 15788730; Phenotypes: Smith-Magenis syndrome (MIM#182290), AD, IC; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Apr 2020	Mendeliome v0.2485	ORAI1	Zornitza Stark Marked gene: ORAI1 as ready
20 Apr 2020	Mendeliome v0.2485	ORAI1	Zornitza Stark Gene: orai1 has been classified as Green List (High Evidence).
20 Apr 2020	Mendeliome v0.2485	ORAI1	Zornitza Stark Phenotypes for gene: ORAI1 were changed from to Immunodeficiency 9, MIM# 612782; Myopathy, tubular aggregate, 2, MIM# 615883
20 Apr 2020	Mendeliome v0.2484	ORAI1	Zornitza Stark Publications for gene: ORAI1 were set to
20 Apr 2020	Mendeliome v0.2483	ORAI1	Zornitza Stark Mode of pathogenicity for gene: ORAI1 was changed from to Other
20 Apr 2020	Mendeliome v0.2482	ORAI1	Zornitza Stark Mode of inheritance for gene: ORAI1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Apr 2020	Mendeliome v0.2440	ORAI1	Natalie Tan changed review comment from: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence): - Dominant ORAI1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias) - Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy); to: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence): - Dominant ORAI1 missense variants via a GOF mechanism cause a slowly progressive myopathy (tubular aggregate myopathy/TAM) - Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy)
20 Apr 2020	Mendeliome v0.2440	ORAI1	Natalie Tan changed review comment from: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence): - Dominant ORAI1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias) - Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy); to: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence): - Dominant ORAI1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias) - Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy)
20 Apr 2020	Mendeliome v0.2440	ORAI1	Natalie Tan reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31448844; Phenotypes: Progressive myopathy, contractures; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
17 Nov 2019	Mendeliome v0.0	RAI1	Zornitza Stark gene: RAI1 was added gene: RAI1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAI1 was set to Unknown
17 Nov 2019	Mendeliome v0.0	ORAI1	Zornitza Stark gene: ORAI1 was added gene: ORAI1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ORAI1 was set to Unknown