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BabyScreen+ newborn screening

Gene: STIM1

Green List (high evidence)
STIM1 (stromal interaction molecule 1)
EnsemblGeneIds (GRCh38): ENSG00000167323
EnsemblGeneIds (GRCh37): ENSG00000167323
OMIM: 605921, Gene2Phenotype
STIM1 is in 13 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Many deaths in infancy reported.
Created: 24 Mar 2023, 12:36 a.m. | Last Modified: 24 Mar 2023, 12:36 a.m.
Panel Version: 0.2069

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 10 MIM612783

Created: 24 Mar 2023, 12:36 a.m.
Last Modified: 24 Mar 2023, 12:36 a.m.
Panel version: 0.2069

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

recurrent infections in childhood due to defective T- and NK-cell function, although the severity is variable. Affected individuals may also have hypotonia, hypohidrosis, or dental enamel hypoplasia consistent with amelogenesis imperfecta

Rx bone marrow transpant

Age of onset is consistently <5 but the severity of infections is highly variable - treatment if the phenotype is severe
Sources: Expert list
Created: 23 Mar 2023, 11:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 10 MIM612783

Publications

Created: 23 Mar 2023, 11:01 a.m.

Panel version: 0.2063

History Filter Activity

24 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stim1 has been classified as Green List (High Evidence).

24 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stim1 has been classified as Green List (High Evidence).

24 Mar 2023, Gel status: 0

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: STIM1. Tag immunological tag was added to gene: STIM1.

23 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

gene: STIM1 was added gene: STIM1 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: STIM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STIM1 were set to PMID: 26469693, PMID: 30949876, PMID: 26560041 Phenotypes for gene: STIM1 were set to Immunodeficiency 10 MIM612783 Review for gene: STIM1 was set to GREEN