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  3. NSMCE3
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Combined Immunodeficiency

Gene: NSMCE3

Amber List (moderate evidence)
NSMCE3 (NSE3 homolog, SMC5-SMC6 complex component)
EnsemblGeneIds (GRCh38): ENSG00000185115
EnsemblGeneIds (GRCh37): ENSG00000185115
OMIM: 608243, Gene2Phenotype
NSMCE3 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families, some functional data.
Sources: Expert list
Created: 10 Jan 2020, 3:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241

Publications

Created: 10 Jan 2020, 3:26 a.m.

Panel version: 0.31

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241
OMIM
608243
Clinvar variants
Variants in NSMCE3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nsmce3 has been classified as Amber List (Moderate Evidence).

10 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nsmce3 has been classified as Amber List (Moderate Evidence).

10 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NSMCE3 was added gene: NSMCE3 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: NSMCE3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSMCE3 were set to 27427983 Phenotypes for gene: NSMCE3 were set to Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241 Review for gene: NSMCE3 was set to AMBER